Canonical Allele Identifier: CA177873

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6355415C>T , CM000674.2:g.6355415C>T	GRCh38
NC_000012.11:g.6464581C>T , CM000674.1:g.6464581C>T	GRCh37
NC_000012.10:g.6334842C>T	NCBI36
NG_011945.1:g.26943G>A
NG_011945.2:g.26943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1000G>A MANE Select	ENSP00000228916.2:p.Ala334Thr
ENST00000228916.6:c.1000G>A	ENSP00000228916.2:p.Ala334Thr
ENST00000338748.9:c.*71G>A	ENSP00000345028.5:n.*71G>A
ENST00000360168.7:c.1177G>A	ENSP00000353292.3:p.Ala393Thr
ENST00000366131.6:n.22G>A
ENST00000396966.6:c.1000G>A	ENSP00000380166.2:p.Ala334Thr
ENST00000536087.1:n.538G>A
ENST00000538979.5:n.409G>A
ENST00000540037.5:c.100G>A	ENSP00000440876.1:p.Ala34Thr
ENST00000541249.5:n.227-37G>A
ENST00000542966.1:n.482G>A
ENST00000543768.1:c.1069G>A	ENSP00000438739.1:p.Ala357Thr
NM_001038.5:c.1000G>A	NP_001029.1:p.Ala334Thr
NM_001159575.1:c.1069G>A	NP_001153047.1:p.Ala357Thr
NM_001159576.1:c.1177G>A	NP_001153048.1:p.Ala393Thr
XR_001748984.1:n.554-110C>T
NM_001038.6:c.1000G>A MANE Select	NP_001029.1:p.Ala334Thr
NM_001159576.2:c.1177G>A	NP_001153048.1:p.Ala393Thr
NM_001159575.2:c.1069G>A	NP_001153047.1:p.Ala357Thr