Canonical Allele Identifier: CA147050
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93554
ClinVar RCV Id: RCV000079470 RCV001664268
dbSNP Id: rs59228224
ExAC: 1:229567683 TC / T
gnomAD v2: 1-229567683-TC-T
gnomAD v3: 1-229431936-TC-T
gnomAD v4: 1-229431936-TC-T
COSMIC: COSN2533547 COSN2534028 COSN18724642 COSN18724675 COSN18724712
MyVariant Identifiers: chr1:g.229567684del (hg19) chr1:g.229567684delC (hg19) chr1:g.229431937del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431937del , CM000663.2:g.229431937del GRCh38
NC_000001.10:g.229567684del , CM000663.1:g.229567684del GRCh37
NC_000001.9:g.227634307del NCBI36
NG_006672.1:g.7160del , LRG_429:g.7160del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.809-35del ENSP00000355644.4:n.809-35del
ENST00000684723.1:c.674-35del ENSP00000508084.1:n.674-35del
ENST00000366683.3:c.480-75del ENSP00000355644.3:n.480-75del
ENST00000366684.7:c.809-35del MANE Select ENSP00000355645.3:n.809-35del
NM_001100.3:c.809-35del , LRG_429t1:c.809-35del NP_001091.1:n.809-35del
NM_001100.4:c.809-35del MANE Select NP_001091.1:n.809-35del
Search 100 bp 5'
Search 100 bp 3'