Canonical Allele Identifier: CA201022

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6348030C>A , CM000674.2:g.6348030C>A	GRCh38
NC_000012.11:g.6457196C>A , CM000674.1:g.6457196C>A	GRCh37
NC_000012.10:g.6327457C>A	NCBI36
NG_011945.1:g.34328G>T
NG_011945.2:g.34328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1853G>T MANE Select	ENSP00000228916.2:p.Cys618Phe
ENST00000228916.6:c.1853G>T	ENSP00000228916.2:p.Cys618Phe
ENST00000338748.9:c.*924G>T	ENSP00000345028.5:n.*924G>T
ENST00000360168.7:c.2030G>T	ENSP00000353292.3:p.Cys677Phe
ENST00000396966.6:c.*259G>T	ENSP00000380166.2:n.*259G>T
ENST00000540037.5:c.953G>T	ENSP00000440876.1:p.Cys318Phe
ENST00000543768.1:c.1922G>T	ENSP00000438739.1:p.Cys641Phe
NM_001038.5:c.1853G>T	NP_001029.1:p.Cys618Phe
NM_001159575.1:c.1922G>T	NP_001153047.1:p.Cys641Phe
NM_001159576.1:c.2030G>T	NP_001153048.1:p.Cys677Phe
NM_001038.6:c.1853G>T MANE Select	NP_001029.1:p.Cys618Phe
NM_001159576.2:c.2030G>T	NP_001153048.1:p.Cys677Phe
NM_001159575.2:c.1922G>T	NP_001153047.1:p.Cys641Phe