Canonical Allele Identifier: CA38814565
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1207757
ClinVar RCV Id: RCV001575856
dbSNP Id: rs148828901
gnomAD v2: 1-229567187-G-GC
gnomAD v3: 1-229431440-G-GC
gnomAD v4: 1-229431440-G-GC
MyVariant Identifiers: chr1:g.229567187_229567188insC (hg19) chr1:g.229431440_229431441insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431447dup , CM000663.2:g.229431447dup GRCh38
NC_000001.10:g.229567194dup , CM000663.1:g.229567194dup GRCh37
NC_000001.9:g.227633817dup NCBI36
NG_006672.1:g.7656dup , LRG_429:g.7656dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*58dup ENSP00000355644.4:n.*58dup
ENST00000684723.1:c.*58dup ENSP00000508084.1:n.*58dup
ENST00000366683.3:c.*58dup ENSP00000355644.3:n.*58dup
ENST00000366684.7:c.*58dup MANE Select ENSP00000355645.3:n.*58dup
NM_001100.3:c.*58dup , LRG_429t1:c.*58dup NP_001091.1:n.*58dup
NM_001100.4:c.*58dup MANE Select NP_001091.1:n.*58dup
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