Entrez Gene

Basic Information
Gene ID	6337
Name	SCNN1A
Synonymous	sodium channel, non voltage gated 1 alpha subunit;SCNN1A;sodium channel, non voltage gated 1 alpha subunit
Definition	alpha ENaC-2\|alpha-ENaC\|alpha-NaCH\|amiloride-sensitive epithelial sodium channel alpha subunit\|amiloride-sensitive sodium channel subunit alpha\|amiloride-sensitive sodium channel subunit alpha 2\|epithelial Na(+) channel subunit alpha\|nasal epithelial sodi
Position	12p13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.319G>A; p.G107R; 12:6374465-6374465	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.319G>A; p.G107R; 12:6374465-6374465	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1080C>A; p.A360A; 12:6355335-6355335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1985C>T; p.S662F; 12:6347898-6347898	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.318C>T; p.F106F; 12:6374466-6374466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.416+2T>C; p.?; 12:6374366-6374366	skin; face	carcinoma; squamous_cell_carcinoma	Unknown
c.835A>C; p.I279L; 12:6362091-6362091	urinary_tract; bladder	carcinoma	Substitution - Missense
c.898C>T; p.P300S; 12:6355858-6355858	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1330T>C; p.Y444H; 12:6354468-6354468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1964delG; p.G655fs*>15; 12:6347919-6347919	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1988C>T; p.T663I; 12:6347895-6347895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.878A>G; p.N293S; 12:6355878-6355878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1770C>T; p.S590S; 12:6348113-6348113	skin	malignant_melanoma	Substitution - coding silent
c.1116C>T; p.G372G; 12:6355299-6355299	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1460C>T; p.S487F; 12:6349201-6349201	urinary_tract; bladder	carcinoma	Substitution - Missense
c.256T>C; p.F86L; 12:6374528-6374528	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1669C>T; p.L557L; 12:6348214-6348214	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1641C>G; p.L547L; 12:6348242-6348242	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2004_2005insG; p.P669fs*>2; 12:6347878-6347879	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2004_2005insG; p.P669fs*>2; 12:6347878-6347879	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.423G>A; p.P141P; 12:6363704-6363704	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1351A>C; p.S451R; 12:6354447-6354447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.306C>T; p.F102F; 12:6374478-6374478	skin	malignant_melanoma	Substitution - coding silent
c.88G>A; p.G30R; 12:6374696-6374696	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.354C>T; p.I118I; 12:6374430-6374430	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.941C>G; p.S314C; 12:6355815-6355815	urinary_tract; bladder	carcinoma	Substitution - Missense
c.592C>T; p.H198Y; 12:6363535-6363535	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>G; p.S314C; 12:6355815-6355815	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1164G>A; p.G388G; 12:6354828-6354828	skin	malignant_melanoma	Substitution - coding silent
c.1612G>A; p.E538K; 12:6348744-6348744	urinary_tract; bladder	carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>C; p.A281P; 12:6362085-6362085	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1853G>T; p.C618F; 12:6348030-6348030	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.775A>G; p.I259V; 12:6362151-6362151	urinary_tract; bladder	carcinoma	Substitution - Missense
c.280A>G; p.T94A; 12:6374504-6374504	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>A; p.L31M; 12:6374693-6374693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>A; p.L31M; 12:6374693-6374693	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.205C>A; p.H69N; 12:6374579-6374579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>T; p.P13L; 12:6374746-6374746	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1359G>A; p.W453*; 12:6354439-6354439	skin	malignant_melanoma	Substitution - Nonsense
c.194_196delACA; p.N65delN; 12:6374588-6374590	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.521C>T; p.S174F; 12:6363606-6363606	urinary_tract; bladder	carcinoma	Substitution - Missense
c.811G>A; p.E271K; 12:6362115-6362115	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.99C>T; p.P33P; 12:6374685-6374685	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.22G>A; p.E8K; 12:6374762-6374762	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1716C>T; p.L572L; 12:6348167-6348167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.834C>T; p.F278F; 12:6362092-6362092	skin	malignant_melanoma	Substitution - coding silent
c.717G>A; p.Q239Q; 12:6362209-6362209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1832C>T; p.S611F; 12:6348051-6348051	breast	carcinoma	Substitution - Missense
c.866G>A; p.C289Y; 12:6362060-6362060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67G>A; p.G23R; 12:6374717-6374717	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.67G>A; p.G23R; 12:6374717-6374717	skin	malignant_melanoma	Substitution - Missense
c.1612G>C; p.E538Q; 12:6348744-6348744	breast	carcinoma	Substitution - Missense
c.869A>G; p.N290S; 12:6362057-6362057	skin	malignant_melanoma	Substitution - Missense
c.1837C>T; p.P613S; 12:6348046-6348046	skin	malignant_melanoma	Substitution - Missense
c.1206T>C; p.P402P; 12:6354786-6354786	prostate	carcinoma	Substitution - coding silent
c.1522C>T; p.R508*; 12:6348981-6348981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1017C>T; p.F339F; 12:6355398-6355398	skin	malignant_melanoma	Substitution - coding silent
c.136G>A; p.E46K; 12:6374648-6374648	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101A>G; p.E34G; 12:6374683-6374683	urinary_tract; bladder	carcinoma	Substitution - Missense
c.738T>A; p.D246E; 12:6362188-6362188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.946C>T; p.L316F; 12:6355810-6355810	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.601C>T; p.R201C; 12:6363526-6363526	skin	malignant_melanoma	Substitution - Missense
c.1629+1G>C; p.?; 12:6348726-6348726	lung	carcinoma; adenocarcinoma	Unknown
c.1987A>G; p.T663A; 12:6347896-6347896	thyroid	other; neoplasm	Substitution - Missense
c.1987A>G; p.T663A; 12:6347896-6347896	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1987A>G; p.T663A; 12:6347896-6347896	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2004delG; p.*670fs?; 12:6347879-6347879	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2004delG; p.*670fs?; 12:6347879-6347879	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1485G>A; p.S495S; 12:6349176-6349176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2004delG; p.*670fs?; 12:6347879-6347879	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.767A>G; p.Y256C; 12:6362159-6362159	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1281G>A; p.K427K; 12:6354517-6354517	skin	malignant_melanoma	Substitution - coding silent
c.941C>A; p.S314Y; 12:6355815-6355815	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.520T>C; p.S174P; 12:6363607-6363607	urinary_tract; bladder	carcinoma	Substitution - Missense
c.207C>T; p.H69H; 12:6374577-6374577	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.272G>A; p.W91*; 12:6374512-6374512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4G>A; p.E2K; 12:6374780-6374780	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4G>A; p.E2K; 12:6374780-6374780	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.108_109GG>AA; p.A37T; 12:6374675-6374676	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.703G>C; p.D235H; 12:6362223-6362223	stomach	adenocarcinoma	Substitution - Missense
c.1233C>A; p.Y411*; 12:6354759-6354759	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1233C>A; p.Y411*; 12:6354759-6354759	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1316C>T; p.P439L; 12:6354482-6354482	skin	malignant_melanoma	Substitution - Missense
c.1468T>C; p.Y490H; 12:6349193-6349193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1743C>T; p.F581F; 12:6348140-6348140	skin	malignant_melanoma	Substitution - coding silent
c.167G>A; p.R56Q; 12:6374617-6374617	breast	carcinoma	Substitution - Missense
c.998G>A; p.R333H; 12:6355417-6355417	pancreas	carcinoma	Substitution - Missense
c.1772G>C; p.R591P; 12:6348111-6348111	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1521G>A; p.S507S; 12:6348982-6348982	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1521G>A; p.S507S; 12:6348982-6348982	breast	carcinoma	Substitution - coding silent
c.1551G>A; p.K517K; 12:6348952-6348952	skin	malignant_melanoma	Substitution - coding silent
c.98_99CC>TT; p.P33L; 12:6374685-6374686	skin	malignant_melanoma	Substitution - Missense
c.1324G>A; p.V442M; 12:6354474-6354474	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1795G>A; p.G599S; 12:6348088-6348088	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1744C>A; p.L582I; 12:6348139-6348139	kidney	other; neoplasm	Substitution - Missense
c.1441G>A; p.V481M; 12:6349220-6349220	skin	malignant_melanoma	Substitution - Missense
c.741G>A; p.A247A; 12:6362185-6362185	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.116A>C; p.Q39P; 12:6374668-6374668	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.858G>C; p.Q286H; 12:6362068-6362068	skin	malignant_melanoma	Substitution - Missense
c.858G>C; p.Q286H; 12:6362068-6362068	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1606A>G; p.N536D; 12:6348750-6348750	skin; extremity	malignant_melanoma	Substitution - Missense
c.1540G>A; p.V514I; 12:6348963-6348963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1993C>T; p.P665S; 12:6347890-6347890	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1129A>G; p.I377V; 12:6355286-6355286	prostate	adenoma	Substitution - Missense
c.1438A>T; p.S480C; 12:6349328-6349328	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.261G>A; p.W87*; 12:6374523-6374523	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.539T>C; p.L180P; 12:6363588-6363588	skin	malignant_melanoma	Substitution - Missense
c.1616C>T; p.S539F; 12:6348740-6348740	skin	malignant_melanoma	Substitution - Missense
c.1677C>T; p.F559F; 12:6348206-6348206	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1636A>T; p.T546S; 12:6348247-6348247	skin	malignant_melanoma	Substitution - Missense
c.1427G>A; p.R476Q; 12:6349339-6349339	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1314G>T; p.R438R; 12:6354484-6354484	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>A; p.D390N; 12:6354824-6354824	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1578C>T; p.I526I; 12:6348778-6348778	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1168G>A; p.D390N; 12:6354824-6354824	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]