Canonical Allele Identifier: CA208117
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210091
ClinVar RCV Id: RCV000194143 RCV001099821 RCV001099822 RCV001099823 RCV003947591
dbSNP Id: rs140074813
ExAC: 1:229567591 G / A
gnomAD v2: 1-229567591-G-A
gnomAD v3: 1-229431844-G-A
gnomAD v4: 1-229431844-G-A
MyVariant Identifiers: chr1:g.229567591G>A (hg19) chr1:g.229431844G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431844G>A , CM000663.2:g.229431844G>A GRCh38
NC_000001.10:g.229567591G>A , CM000663.1:g.229567591G>A GRCh37
NC_000001.9:g.227634214G>A NCBI36
NG_006672.1:g.7253C>T , LRG_429:g.7253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.867C>T ENSP00000355644.4:p.Ile289=
ENST00000684723.1:c.732C>T ENSP00000508084.1:p.Ile244=
ENST00000366683.3:c.498C>T ENSP00000355644.3:p.Ile166=
ENST00000366684.7:c.867C>T MANE Select ENSP00000355645.3:p.Ile289=
NM_001100.3:c.867C>T , LRG_429t1:c.867C>T NP_001091.1:p.Ile289=
NM_001100.4:c.867C>T MANE Select NP_001091.1:p.Ile289=
Search 100 bp 5'
Search 100 bp 3'