Canonical Allele Identifier: CA1442820
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 257447
ClinVar RCV Id: RCV000246994 RCV000555861 RCV001705343
dbSNP Id: rs199804338
ExAC: 1:229567937 G / A
gnomAD v2: 1-229567937-G-A
gnomAD v3: 1-229432190-G-A
gnomAD v4: 1-229432190-G-A
MyVariant Identifiers: chr1:g.229567937G>A (hg19) chr1:g.229432190G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432190G>A , CM000663.2:g.229432190G>A GRCh38
NC_000001.10:g.229567937G>A , CM000663.1:g.229567937G>A GRCh37
NC_000001.9:g.227634560G>A NCBI36
NG_006672.1:g.6907C>T , LRG_429:g.6907C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-5C>T ENSP00000355644.4:n.617-5C>T
ENST00000684723.1:c.482-5C>T ENSP00000508084.1:n.482-5C>T
ENST00000366683.3:c.479+217C>T ENSP00000355644.3:n.479+217C>T
ENST00000366684.7:c.617-5C>T MANE Select ENSP00000355645.3:n.617-5C>T
NM_001100.3:c.617-5C>T , LRG_429t1:c.617-5C>T NP_001091.1:n.617-5C>T
NM_001100.4:c.617-5C>T MANE Select NP_001091.1:n.617-5C>T
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