Canonical Allele Identifier: CA383554439

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349405C>T , CM000674.2:g.6349405C>T	GRCh38
NC_000012.11:g.6458571C>T , CM000674.1:g.6458571C>T	GRCh37
NC_000012.10:g.6328832C>T	NCBI36
NG_011945.1:g.32953G>A
NG_011945.2:g.32953G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1361G>A MANE Select	NP_001029.1:p.Gly454Glu
ENST00000228916.7:c.1361G>A MANE Select	ENSP00000228916.2:p.Gly454Glu
NM_001038.5:c.1361G>A	NP_001029.1:p.Gly454Glu
NM_001159575.1:c.1430G>A	NP_001153047.1:p.Gly477Glu
NM_001159575.2:c.1430G>A	NP_001153047.1:p.Gly477Glu
NM_001159576.1:c.1538G>A	NP_001153048.1:p.Gly513Glu
NM_001159576.2:c.1538G>A	NP_001153048.1:p.Gly513Glu
ENST00000228916.6:c.1361G>A	ENSP00000228916.2:p.Gly454Glu
ENST00000338748.9:c.*432G>A	ENSP00000345028.5:n.*432G>A
ENST00000360168.7:c.1538G>A	ENSP00000353292.3:p.Gly513Glu
ENST00000396966.6:c.1361G>A	ENSP00000380166.2:p.Gly454Glu
ENST00000457871.2:n.308G>A
ENST00000540037.5:c.461G>A	ENSP00000440876.1:p.Gly154Glu
ENST00000543768.1:c.1430G>A	ENSP00000438739.1:p.Gly477Glu
XR_001748982.1:n.87+1138C>T
XR_001748983.1:n.87+1138C>T
XR_001748984.1:n.87+1138C>T