Canonical Allele Identifier: CA345146692
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1180752
ClinVar RCV Id: RCV001814481 RCV001873814
dbSNP Id: rs1659954399
gnomAD v3: 1-229432053-A-G
gnomAD v4: 1-229432053-A-G
MyVariant Identifiers: chr1:g.229567800A>G (hg19) chr1:g.229432053A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432053A>G , CM000663.2:g.229432053A>G GRCh38
NC_000001.10:g.229567800A>G , CM000663.1:g.229567800A>G GRCh37
NC_000001.9:g.227634423A>G NCBI36
NG_006672.1:g.7044T>C , LRG_429:g.7044T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.749T>C ENSP00000355644.4:p.Ile250Thr
ENST00000684723.1:c.614T>C ENSP00000508084.1:p.Ile205Thr
ENST00000366683.3:c.480-191T>C ENSP00000355644.3:n.480-191T>C
ENST00000366684.7:c.749T>C MANE Select ENSP00000355645.3:p.Ile250Thr
NM_001100.3:c.749T>C , LRG_429t1:c.749T>C NP_001091.1:p.Ile250Thr
NM_001100.4:c.749T>C MANE Select NP_001091.1:p.Ile250Thr
Search 100 bp 5'
Search 100 bp 3'