Canonical Allele Identifier: CA12483974
Gene: AKR1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.134459206G>A
GRCh37 chr7:g.134143958G>A
gnomAD v2:
7:134143958 G / A
gnomAD v3:
7:134459206 G / A
gnomAD v4:
chr7-134459206-G-A
Joint Max Group AF 0.40521363 (NFE)
Genomes Max Group AF 0.4038616 (NFE)
Exomes Max Group AF 0.40498363 (NFE)
dbSNP:
759853
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.134459206G>A , CM000669.2:g.134459206G>A GRCh38
NC_000007.13:g.134143958G>A , CM000669.1:g.134143958G>A GRCh37
NC_000007.12:g.133794498G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000467829.1:n.79C>T
ENST00000491741.5:n.79C>T
ENST00000497983.5:n.47C>T
NM_001346142.1:c.-451C>T NP_001333071.1:n.-451C>T
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