Canonical Allele Identifier: CA6405734

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310133
• ClinVar RCV Id: RCV000299120 ; RCV000397367 ; RCV002522246
• dbSNP Id: rs199526819
• ExAC: 12:6457363 C / T
• gnomAD v2: 12-6457363-C-T
• gnomAD v3: 12-6348197-C-T
• gnomAD v4: 12-6348197-C-T
• MyVariant Identifiers: chr12:g.6457363C>T (hg19) ; chr12:g.6348197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6348197C>T , CM000674.2:g.6348197C>T	GRCh38
NC_000012.11:g.6457363C>T , CM000674.1:g.6457363C>T	GRCh37
NC_000012.10:g.6327624C>T	NCBI36
NG_011945.1:g.34161G>A
NG_011945.2:g.34161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1686G>A MANE Select	ENSP00000228916.2:p.Ser562=
ENST00000228916.6:c.1686G>A	ENSP00000228916.2:p.Ser562=
ENST00000338748.9:c.*757G>A	ENSP00000345028.5:n.*757G>A
ENST00000360168.7:c.1863G>A	ENSP00000353292.3:p.Ser621=
ENST00000396966.6:c.*92G>A	ENSP00000380166.2:n.*92G>A
ENST00000539953.1:n.287G>A
ENST00000540037.5:c.786G>A	ENSP00000440876.1:p.Ser262=
ENST00000543768.1:c.1755G>A	ENSP00000438739.1:p.Ser585=
NM_001038.5:c.1686G>A	NP_001029.1:p.Ser562=
NM_001159575.1:c.1755G>A	NP_001153047.1:p.Ser585=
NM_001159576.1:c.1863G>A	NP_001153048.1:p.Ser621=
XR_001748982.1:n.17C>T
XR_001748983.1:n.17C>T
XR_001748984.1:n.17C>T
NM_001038.6:c.1686G>A MANE Select	NP_001029.1:p.Ser562=
NM_001159576.2:c.1863G>A	NP_001153048.1:p.Ser621=
NM_001159575.2:c.1755G>A	NP_001153047.1:p.Ser585=