Canonical Allele Identifier: CA529656393
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1439854698
gnomAD v2: 1-229566896-C-G
gnomAD v3: 1-229431149-C-G
gnomAD v4: 1-229431149-C-G
MyVariant Identifiers: chr1:g.229566896C>G (hg19) chr1:g.229431149C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431149C>G , CM000663.2:g.229431149C>G GRCh38
NC_000001.10:g.229566896C>G , CM000663.1:g.229566896C>G GRCh37
NC_000001.9:g.227633519C>G NCBI36
NG_006672.1:g.7948G>C , LRG_429:g.7948G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*350G>C ENSP00000508084.1:n.*350G>C
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