Canonical Allele Identifier: CA732579165
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs762047409
gnomAD v3: 1-229431463-C-G
gnomAD v4: 1-229431463-C-G
MyVariant Identifiers: chr1:g.229567210C>G (hg19) chr1:g.229431463C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431463C>G , CM000663.2:g.229431463C>G GRCh38
NC_000001.10:g.229567210C>G , CM000663.1:g.229567210C>G GRCh37
NC_000001.9:g.227633833C>G NCBI36
NG_006672.1:g.7634G>C , LRG_429:g.7634G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*36G>C ENSP00000355644.4:n.*36G>C
ENST00000684723.1:c.*36G>C ENSP00000508084.1:n.*36G>C
ENST00000366683.3:c.*36G>C ENSP00000355644.3:n.*36G>C
ENST00000366684.7:c.*36G>C MANE Select ENSP00000355645.3:n.*36G>C
NM_001100.3:c.*36G>C , LRG_429t1:c.*36G>C NP_001091.1:n.*36G>C
NM_001100.4:c.*36G>C MANE Select NP_001091.1:n.*36G>C
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