Canonical Allele Identifier: CA529915284
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs201696359
gnomAD v2: 1-229567442-G-C
gnomAD v4: 1-229431695-G-C
MyVariant Identifiers: chr1:g.229567442G>C (hg19) chr1:g.229431695G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431695G>C , CM000663.2:g.229431695G>C GRCh38
NC_000001.10:g.229567442G>C , CM000663.1:g.229567442G>C GRCh37
NC_000001.9:g.227634065G>C NCBI36
NG_006672.1:g.7402C>G , LRG_429:g.7402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+26C>G ENSP00000355644.4:n.990+26C>G
ENST00000684723.1:c.855+26C>G ENSP00000508084.1:n.855+26C>G
ENST00000366683.3:c.621+26C>G ENSP00000355644.3:n.621+26C>G
ENST00000366684.7:c.990+26C>G MANE Select ENSP00000355645.3:n.990+26C>G
NM_001100.3:c.990+26C>G , LRG_429t1:c.990+26C>G NP_001091.1:n.990+26C>G
NM_001100.4:c.990+26C>G MANE Select NP_001091.1:n.990+26C>G
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