Canonical Allele Identifier: CA38814482
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs976184896
gnomAD v2: 1-229566966-C-A
gnomAD v3: 1-229431219-C-A
gnomAD v4: 1-229431219-C-A
MyVariant Identifiers: chr1:g.229566966C>A (hg19) chr1:g.229431219C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431219C>A , CM000663.2:g.229431219C>A GRCh38
NC_000001.10:g.229566966C>A , CM000663.1:g.229566966C>A GRCh37
NC_000001.9:g.227633589C>A NCBI36
NG_006672.1:g.7878G>T , LRG_429:g.7878G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*280G>T ENSP00000508084.1:n.*280G>T
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