Canonical Allele Identifier: CA345145962
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521371
ClinVar RCV Id: RCV000622327 RCV001253385
dbSNP Id: rs1553255354
MyVariant Identifiers: chr1:g.229567590C>G (hg19) chr1:g.229431843C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431843C>G , CM000663.2:g.229431843C>G GRCh38
NC_000001.10:g.229567590C>G , CM000663.1:g.229567590C>G GRCh37
NC_000001.9:g.227634213C>G NCBI36
NG_006672.1:g.7254G>C , LRG_429:g.7254G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.868G>C ENSP00000355644.4:p.Asp290His
ENST00000684723.1:c.733G>C ENSP00000508084.1:p.Asp245His
ENST00000366683.3:c.499G>C ENSP00000355644.3:p.Asp167His
ENST00000366684.7:c.868G>C MANE Select ENSP00000355645.3:p.Asp290His
NM_001100.3:c.868G>C , LRG_429t1:c.868G>C NP_001091.1:p.Asp290His
NM_001100.4:c.868G>C MANE Select NP_001091.1:p.Asp290His
Search 100 bp 5'
Search 100 bp 3'