Canonical Allele Identifier: CA529656390
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1469442044
gnomAD v2: 1-229566806-C-CT
gnomAD v3: 1-229431059-C-CT
gnomAD v4: 1-229431059-C-CT
MyVariant Identifiers: chr1:g.229566806_229566807insT (hg19) chr1:g.229431059_229431060insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431060dup , CM000663.2:g.229431060dup GRCh38
NC_000001.10:g.229566807dup , CM000663.1:g.229566807dup GRCh37
NC_000001.9:g.227633430dup NCBI36
NG_006672.1:g.8037dup , LRG_429:g.8037dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*439dup ENSP00000508084.1:n.*439dup
Search 100 bp 5'
Search 100 bp 3'