Canonical Allele Identifier: CA38814473

Gene: ACTA1

Linked Data

• dbSNP Id: rs986557110
• gnomAD v3: 1-229431195-G-A
• gnomAD v4: 1-229431195-G-A
• MyVariant Identifiers: chr1:g.229566942G>A (hg19) ; chr1:g.229431195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431195G>A , CM000663.2:g.229431195G>A	GRCh38
NC_000001.10:g.229566942G>A , CM000663.1:g.229566942G>A	GRCh37
NC_000001.9:g.227633565G>A	NCBI36
NG_006672.1:g.7902C>T , LRG_429:g.7902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684723.1:c.*304C>T	ENSP00000508084.1:n.*304C>T