Canonical Allele Identifier: CA10633446

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310119
• ClinVar RCV Id: RCV000260601 ; RCV000315805 ; RCV001785558
• dbSNP Id: rs62619209
• gnomAD v2: 12-6456125-T-C
• gnomAD v3: 12-6346959-T-C
• gnomAD v4: 12-6346959-T-C
• MyVariant Identifiers: chr12:g.6456125T>C (hg19) ; chr12:g.6346959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6346959T>C , CM000674.2:g.6346959T>C	GRCh38
NC_000012.11:g.6456125T>C , CM000674.1:g.6456125T>C	GRCh37
NC_000012.10:g.6326386T>C	NCBI36
NG_007506.1:g.137A>G , LRG_193:g.137A>G
NG_011945.1:g.35399A>G
NG_011945.2:g.35399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.*914A>G MANE Select	ENSP00000228916.2:n.*914A>G
ENST00000228916.6:c.*914A>G	ENSP00000228916.2:n.*914A>G
ENST00000360168.7:c.*914A>G	ENSP00000353292.3:n.*914A>G
ENST00000540037.5:c.*914A>G	ENSP00000440876.1:n.*914A>G
NM_001038.5:c.*914A>G	NP_001029.1:n.*914A>G
NM_001159575.1:c.*914A>G	NP_001153047.1:n.*914A>G
NM_001159576.1:c.*914A>G	NP_001153048.1:n.*914A>G
XR_931593.1:n.1593T>C
XR_002957396.1:n.1594T>C
NM_001038.6:c.*914A>G MANE Select	NP_001029.1:n.*914A>G
NM_001159576.2:c.*914A>G	NP_001153048.1:n.*914A>G
NM_001159575.2:c.*914A>G	NP_001153047.1:n.*914A>G