Canonical Allele Identifier: CA6405802

Gene: SCNN1A

Linked Data

• dbSNP Id: rs137852634
• ExAC: 12:6458147 G / C
• gnomAD v2: 12-6458147-G-C
• gnomAD v3: 12-6348981-G-C
• gnomAD v4: 12-6348981-G-C
• MyVariant Identifiers: chr12:g.6458147G>C (hg19) ; chr12:g.6348981G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000228916.7:c.1522C>G MANE Select	ENSP00000228916.2:p.Arg508Gly
ENST00000228916.6:c.1522C>G	ENSP00000228916.2:p.Arg508Gly
ENST00000338748.9:c.*593C>G	ENSP00000345028.5:n.*593C>G
ENST00000360168.7:c.1699C>G	ENSP00000353292.3:p.Arg567Gly
ENST00000396966.6:c.1464C>G	ENSP00000380166.2:p.Arg488=
ENST00000457871.2:n.469C>G
ENST00000539953.1:n.123C>G
ENST00000540037.5:c.622C>G	ENSP00000440876.1:p.Arg208Gly
ENST00000543768.1:c.1591C>G	ENSP00000438739.1:p.Arg531Gly
NM_001038.5:c.1522C>G	NP_001029.1:p.Arg508Gly
NM_001159575.1:c.1591C>G	NP_001153047.1:p.Arg531Gly
NM_001159576.1:c.1699C>G	NP_001153048.1:p.Arg567Gly
XR_001748982.1:n.87+714G>C
XR_001748983.1:n.87+714G>C
XR_001748984.1:n.87+714G>C
NM_001038.6:c.1522C>G MANE Select	NP_001029.1:p.Arg508Gly
NM_001159576.2:c.1699C>G	NP_001153048.1:p.Arg567Gly
NM_001159575.2:c.1591C>G	NP_001153047.1:p.Arg531Gly