Canonical Allele Identifier: CA6405988

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6355307G>A , CM000674.2:g.6355307G>A	GRCh38
NC_000012.11:g.6464473G>A , CM000674.1:g.6464473G>A	GRCh37
NC_000012.10:g.6334734G>A	NCBI36
NG_011945.1:g.27051C>T
NG_011945.2:g.27051C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1108C>T MANE Select	NP_001029.1:p.Arg370Trp
ENST00000228916.7:c.1108C>T MANE Select	ENSP00000228916.2:p.Arg370Trp
NM_001038.5:c.1108C>T	NP_001029.1:p.Arg370Trp
NM_001159575.1:c.1177C>T	NP_001153047.1:p.Arg393Trp
NM_001159575.2:c.1177C>T	NP_001153047.1:p.Arg393Trp
NM_001159576.1:c.1285C>T	NP_001153048.1:p.Arg429Trp
NM_001159576.2:c.1285C>T	NP_001153048.1:p.Arg429Trp
ENST00000228916.6:c.1108C>T	ENSP00000228916.2:p.Arg370Trp
ENST00000338748.9:c.*179C>T	ENSP00000345028.5:n.*179C>T
ENST00000360168.7:c.1285C>T	ENSP00000353292.3:p.Arg429Trp
ENST00000366131.6:n.130C>T
ENST00000396966.6:c.1108C>T	ENSP00000380166.2:p.Arg370Trp
ENST00000538979.5:n.517C>T
ENST00000539030.5:n.30C>T
ENST00000540037.5:c.208C>T	ENSP00000440876.1:p.Arg70Trp
ENST00000541249.5:n.298C>T
ENST00000543768.1:c.1177C>T	ENSP00000438739.1:p.Arg393Trp
XR_001748984.1:n.554-218G>A