Canonical Allele Identifier: CA120270

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 9264
• ClinVar RCV Id: RCV000009846 ; RCV002298438 ; RCV002482850
• dbSNP Id: rs137852634
• ExAC: 12:6458147 G / A
• gnomAD v2: 12-6458147-G-A
• gnomAD v3: 12-6348981-G-A
• gnomAD v4: 12-6348981-G-A
• COSMIC: COSM1224943
• MyVariant Identifiers: chr12:g.6458147G>A (hg19) ; chr12:g.6348981G>A (hg38)
• PubMed: PMID:8589714 ; PMID:10510337

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000228916.7:c.1522C>T MANE Select	ENSP00000228916.2:p.Arg508Ter
ENST00000228916.6:c.1522C>T	ENSP00000228916.2:p.Arg508Ter
ENST00000338748.9:c.*593C>T	ENSP00000345028.5:n.*593C>T
ENST00000360168.7:c.1699C>T	ENSP00000353292.3:p.Arg567Ter
ENST00000396966.6:c.1464C>T	ENSP00000380166.2:p.Arg488=
ENST00000457871.2:n.469C>T
ENST00000539953.1:n.123C>T
ENST00000540037.5:c.622C>T	ENSP00000440876.1:p.Arg208Ter
ENST00000543768.1:c.1591C>T	ENSP00000438739.1:p.Arg531Ter
NM_001038.5:c.1522C>T	NP_001029.1:p.Arg508Ter
NM_001159575.1:c.1591C>T	NP_001153047.1:p.Arg531Ter
NM_001159576.1:c.1699C>T	NP_001153048.1:p.Arg567Ter
XR_001748982.1:n.87+714G>A
XR_001748983.1:n.87+714G>A
XR_001748984.1:n.87+714G>A
NM_001038.6:c.1522C>T MANE Select	NP_001029.1:p.Arg508Ter
NM_001159576.2:c.1699C>T	NP_001153048.1:p.Arg567Ter
NM_001159575.2:c.1591C>T	NP_001153047.1:p.Arg531Ter