Canonical Allele Identifier: CA1442785
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1189728
ClinVar RCV Id: RCV001550194
dbSNP Id: rs187159043
ExAC: 1:229567692 C / A
gnomAD v2: 1-229567692-C-A
gnomAD v3: 1-229431945-C-A
gnomAD v4: 1-229431945-C-A
MyVariant Identifiers: chr1:g.229567692C>A (hg19) chr1:g.229567692_229567693delinsAG (hg19) chr1:g.229431945C>A (hg38) chr1:g.229431945_229431946delinsAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431945C>A , CM000663.2:g.229431945C>A GRCh38
NC_000001.10:g.229567692C>A , CM000663.1:g.229567692C>A GRCh37
NC_000001.9:g.227634315C>A NCBI36
NG_006672.1:g.7152G>T , LRG_429:g.7152G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-43G>T ENSP00000355644.4:n.809-43G>T
ENST00000684723.1:c.674-43G>T ENSP00000508084.1:n.674-43G>T
ENST00000366683.3:c.480-83G>T ENSP00000355644.3:n.480-83G>T
ENST00000366684.7:c.809-43G>T MANE Select ENSP00000355645.3:n.809-43G>T
NM_001100.3:c.809-43G>T , LRG_429t1:c.809-43G>T NP_001091.1:n.809-43G>T
NM_001100.4:c.809-43G>T MANE Select NP_001091.1:n.809-43G>T
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