Canonical Allele Identifier: CA38814450
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs754989268
gnomAD v2: 1-229566906-A-G
gnomAD v3: 1-229431159-A-G
gnomAD v4: 1-229431159-A-G
MyVariant Identifiers: chr1:g.229566906A>G (hg19) chr1:g.229431159A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431159A>G , CM000663.2:g.229431159A>G GRCh38
NC_000001.10:g.229566906A>G , CM000663.1:g.229566906A>G GRCh37
NC_000001.9:g.227633529A>G NCBI36
NG_006672.1:g.7938T>C , LRG_429:g.7938T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*340T>C ENSP00000508084.1:n.*340T>C
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