Canonical Allele Identifier: CA38814391
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs759202580
gnomAD v2: 1-229566779-C-T
gnomAD v3: 1-229431032-C-T
gnomAD v4: 1-229431032-C-T
MyVariant Identifiers: chr1:g.229566779C>T (hg19) chr1:g.229431032C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431032C>T , CM000663.2:g.229431032C>T GRCh38
NC_000001.10:g.229566779C>T , CM000663.1:g.229566779C>T GRCh37
NC_000001.9:g.227633402C>T NCBI36
NG_006672.1:g.8065G>A , LRG_429:g.8065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*467G>A ENSP00000508084.1:n.*467G>A
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