Canonical Allele Identifier: CA2014045513

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374444C= , CM000674.2:g.6374444C=	GRCh38
NC_000012.11:g.6483610C= , CM000674.1:g.6483610C=	GRCh37
NC_000012.10:g.6353871C=	NCBI36
NG_011945.1:g.7914G=
NG_033039.1:g.4077C=
NG_011945.2:g.7914G=
NG_033039.2:g.4077C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.340G= MANE Select	NP_001029.1:p.Val114=
ENST00000228916.7:c.340G= MANE Select	ENSP00000228916.2:p.Val114=
NM_001038.5:c.340G=	NP_001029.1:p.Val114=
NM_001159575.1:c.409G=	NP_001153047.1:p.Val137=
NM_001159575.2:c.409G=	NP_001153047.1:p.Val137=
NM_001159576.1:c.517G=	NP_001153048.1:p.Val173=
NM_001159576.2:c.517G=	NP_001153048.1:p.Val173=
ENST00000228916.6:c.340G=	ENSP00000228916.2:p.Val114=
ENST00000338748.9:c.340G=	ENSP00000345028.5:p.Val114=
ENST00000360168.7:c.517G=	ENSP00000353292.3:p.Val173=
ENST00000396966.6:c.340G=	ENSP00000380166.2:p.Val114=
ENST00000536176.1:n.421G=
ENST00000536788.1:c.403G=	ENSP00000443434.1:p.Val135=
ENST00000538979.5:n.82+909G=
ENST00000543585.1:n.476G=
ENST00000543768.1:c.409G=	ENSP00000438739.1:p.Val137=
ENST00000544882.1:n.344G=