Canonical Allele Identifier: CA383554262

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349326C>T , CM000674.2:g.6349326C>T	GRCh38
NC_000012.11:g.6458492C>T , CM000674.1:g.6458492C>T	GRCh37
NC_000012.10:g.6328753C>T	NCBI36
NG_011945.1:g.33032G>A
NG_011945.2:g.33032G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1439+1G>A MANE Select	NP_001029.1:n.1439+1G>A
ENST00000228916.7:c.1439+1G>A MANE Select	ENSP00000228916.2:n.1439+1G>A
NM_001038.5:c.1439+1G>A	NP_001029.1:n.1439+1G>A
NM_001159575.1:c.1508+1G>A	NP_001153047.1:n.1508+1G>A
NM_001159575.2:c.1508+1G>A	NP_001153047.1:n.1508+1G>A
NM_001159576.1:c.1616+1G>A	NP_001153048.1:n.1616+1G>A
NM_001159576.2:c.1616+1G>A	NP_001153048.1:n.1616+1G>A
ENST00000228916.6:c.1439+1G>A	ENSP00000228916.2:n.1439+1G>A
ENST00000338748.9:c.*510+1G>A	ENSP00000345028.5:n.*510+1G>A
ENST00000360168.7:c.1616+1G>A	ENSP00000353292.3:n.1616+1G>A
ENST00000396966.6:c.1439+1G>A	ENSP00000380166.2:n.1439+1G>A
ENST00000457871.2:n.386+1G>A
ENST00000540037.5:c.539+1G>A	ENSP00000440876.1:n.539+1G>A
ENST00000543768.1:c.1508+1G>A	ENSP00000438739.1:n.1508+1G>A
XR_001748982.1:n.87+1059C>T
XR_001748983.1:n.87+1059C>T
XR_001748984.1:n.87+1059C>T