Canonical Allele Identifier: CA38814451

Gene: ACTA1

Linked Data

• dbSNP Id: rs1024899897
• gnomAD v2: 1-229566908-C-G
• gnomAD v3: 1-229431161-C-G
• gnomAD v4: 1-229431161-C-G
• MyVariant Identifiers: chr1:g.229566908C>G (hg19) ; chr1:g.229431161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431161C>G , CM000663.2:g.229431161C>G	GRCh38
NC_000001.10:g.229566908C>G , CM000663.1:g.229566908C>G	GRCh37
NC_000001.9:g.227633531C>G	NCBI36
NG_006672.1:g.7936G>C , LRG_429:g.7936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684723.1:c.*338G>C	ENSP00000508084.1:n.*338G>C