Canonical Allele Identifier: CA38814456
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1212858
ClinVar RCV Id: RCV001586505
dbSNP Id: rs531419880
gnomAD v2: 1-229566920-C-CT
gnomAD v3: 1-229431173-C-CT
gnomAD v4: 1-229431173-C-CT
MyVariant Identifiers: chr1:g.229566920_229566921insT (hg19) chr1:g.229431173_229431174insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431175dup , CM000663.2:g.229431175dup GRCh38
NC_000001.10:g.229566922dup , CM000663.1:g.229566922dup GRCh37
NC_000001.9:g.227633545dup NCBI36
NG_006672.1:g.7923dup , LRG_429:g.7923dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*325dup ENSP00000508084.1:n.*325dup
Search 100 bp 5'
Search 100 bp 3'