Canonical Allele Identifier: CA205739
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210090
ClinVar RCV Id: RCV000192725 RCV000886048 RCV003977503
dbSNP Id: rs373785144
ExAC: 1:229568511 A / G
gnomAD v2: 1-229568511-A-G
gnomAD v3: 1-229432764-A-G
gnomAD v4: 1-229432764-A-G
MyVariant Identifiers: chr1:g.229568511A>G (hg19) chr1:g.229432764A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432764A>G , CM000663.2:g.229432764A>G GRCh38
NC_000001.10:g.229568511A>G , CM000663.1:g.229568511A>G GRCh37
NC_000001.9:g.227635134A>G NCBI36
NG_006672.1:g.6333T>C , LRG_429:g.6333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.246T>C ENSP00000355644.4:p.Asp82=
ENST00000684723.1:c.111T>C ENSP00000508084.1:p.Asp37=
ENST00000366683.3:c.246T>C ENSP00000355644.3:p.Asp82=
ENST00000366684.7:c.246T>C MANE Select ENSP00000355645.3:p.Asp82=
NM_001100.3:c.246T>C , LRG_429t1:c.246T>C NP_001091.1:p.Asp82=
NM_001100.4:c.246T>C MANE Select NP_001091.1:p.Asp82=
Search 100 bp 5'
Search 100 bp 3'