Canonical Allele Identifier: CA345145689
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366585
ClinVar RCV Id: RCV001944746 RCV003442930
dbSNP Id: rs2102735242
gnomAD v4: 1-229431800-C-T
COSMIC: COSM1339911
MyVariant Identifiers: chr1:g.229567547C>T (hg19) chr1:g.229431800C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431800C>T , CM000663.2:g.229431800C>T GRCh38
NC_000001.10:g.229567547C>T , CM000663.1:g.229567547C>T GRCh37
NC_000001.9:g.227634170C>T NCBI36
NG_006672.1:g.7297G>A , LRG_429:g.7297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.911G>A ENSP00000355644.4:p.Gly304Asp
ENST00000684723.1:c.776G>A ENSP00000508084.1:p.Gly259Asp
ENST00000366683.3:c.542G>A ENSP00000355644.3:p.Gly181Asp
ENST00000366684.7:c.911G>A MANE Select ENSP00000355645.3:p.Gly304Asp
NM_001100.3:c.911G>A , LRG_429t1:c.911G>A NP_001091.1:p.Gly304Asp
NM_001100.4:c.911G>A MANE Select NP_001091.1:p.Gly304Asp
Search 100 bp 5'
Search 100 bp 3'