Canonical Allele Identifier: CA147051
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93555
ClinVar RCV Id: RCV000079471 RCV000550376 RCV001098048 RCV001096306
dbSNP Id: rs74897770
ExAC: 1:229567384 G / T
gnomAD v2: 1-229567384-G-T
gnomAD v3: 1-229431637-G-T
gnomAD v4: 1-229431637-G-T
MyVariant Identifiers: chr1:g.229567384G>T (hg19) chr1:g.229431637G>T (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431637G>T , CM000663.2:g.229431637G>T GRCh38
NC_000001.10:g.229567384G>T , CM000663.1:g.229567384G>T GRCh37
NC_000001.9:g.227634007G>T NCBI36
NG_006672.1:g.7460C>A , LRG_429:g.7460C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-73C>A ENSP00000355644.4:n.991-73C>A
ENST00000684723.1:c.861C>A ENSP00000508084.1:p.Ile287=
ENST00000366683.3:c.627C>A ENSP00000355644.3:p.Ile209=
ENST00000366684.7:c.996C>A MANE Select ENSP00000355645.3:p.Ile332=
NM_001100.3:c.996C>A , LRG_429t1:c.996C>A NP_001091.1:p.Ile332=
NM_001100.4:c.996C>A MANE Select NP_001091.1:p.Ile332=
Search 100 bp 5'
Search 100 bp 3'