Canonical Allele Identifier: CA478118149

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6348981G>T , CM000674.2:g.6348981G>T	GRCh38
NC_000012.11:g.6458147G>T , CM000674.1:g.6458147G>T	GRCh37
NC_000012.10:g.6328408G>T	NCBI36
NG_011945.1:g.33377C>A
NG_011945.2:g.33377C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1522C>A MANE Select	NP_001029.1:p.Arg508=
ENST00000228916.7:c.1522C>A MANE Select	ENSP00000228916.2:p.Arg508=
NM_001038.5:c.1522C>A	NP_001029.1:p.Arg508=
NM_001159575.1:c.1591C>A	NP_001153047.1:p.Arg531=
NM_001159575.2:c.1591C>A	NP_001153047.1:p.Arg531=
NM_001159576.1:c.1699C>A	NP_001153048.1:p.Arg567=
NM_001159576.2:c.1699C>A	NP_001153048.1:p.Arg567=
ENST00000228916.6:c.1522C>A	ENSP00000228916.2:p.Arg508=
ENST00000338748.9:c.*593C>A	ENSP00000345028.5:n.*593C>A
ENST00000360168.7:c.1699C>A	ENSP00000353292.3:p.Arg567=
ENST00000396966.6:c.1464C>A	ENSP00000380166.2:p.Arg488=
ENST00000457871.2:n.469C>A
ENST00000539953.1:n.123C>A
ENST00000540037.5:c.622C>A	ENSP00000440876.1:p.Arg208=
ENST00000543768.1:c.1591C>A	ENSP00000438739.1:p.Arg531=
XR_001748982.1:n.87+714G>T
XR_001748983.1:n.87+714G>T
XR_001748984.1:n.87+714G>T