Canonical Allele Identifier: CA10633451

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310123
• ClinVar RCV Id: RCV000351058 ; RCV000397593
• dbSNP Id: rs886049753
• gnomAD v3: 12-6347283-G-C
• gnomAD v4: 12-6347283-G-C
• MyVariant Identifiers: chr12:g.6456449G>C (hg19) ; chr12:g.6347283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6347283G>C , CM000674.2:g.6347283G>C	GRCh38
NC_000012.11:g.6456449G>C , CM000674.1:g.6456449G>C	GRCh37
NC_000012.10:g.6326710G>C	NCBI36
NG_011945.1:g.35075C>G
NG_011945.2:g.35075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.*590C>G MANE Select	ENSP00000228916.2:n.*590C>G
ENST00000228916.6:c.*590C>G	ENSP00000228916.2:n.*590C>G
ENST00000360168.7:c.*590C>G	ENSP00000353292.3:n.*590C>G
ENST00000540037.5:c.*590C>G	ENSP00000440876.1:n.*590C>G
NM_001038.5:c.*590C>G	NP_001029.1:n.*590C>G
NM_001159575.1:c.*590C>G	NP_001153047.1:n.*590C>G
NM_001159576.1:c.*590C>G	NP_001153048.1:n.*590C>G
NM_001038.6:c.*590C>G MANE Select	NP_001029.1:n.*590C>G
NM_001159576.2:c.*590C>G	NP_001153048.1:n.*590C>G
NM_001159575.2:c.*590C>G	NP_001153047.1:n.*590C>G