Canonical Allele Identifier: CA5391664
Gene: AKR1C4 HGNC NCBI
COSMIC:
COSM146868 (not active)
MyVariant.info:
GRCh38 chr10:g.5218719C>G
GRCh37 chr10:g.5260682C>G
Revel Score:
ENST00000380448 0.010
ENST00000263126 (MANE Select) 0.010
gnomAD v2:
10:5260682 C / G
gnomAD v3:
10:5218719 C / G
gnomAD v4:
chr10-5218719-C-G
Joint Max Group AF 0.19029928 (AMR)
Genomes Max Group AF 0.16167739 (AMR)
Exomes Max Group AF 0.19870753 (AMR)
ClinVar RCV:
RCV002857087
ClinVar Variation:
2017866
dbSNP:
17134592
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5218719C>G , CM000672.2:g.5218719C>G GRCh38
NC_000010.10:g.5260682C>G , CM000672.1:g.5260682C>G GRCh37
NC_000010.9:g.5250682C>G NCBI36
NG_031872.1:g.26885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263126.3:c.931C>G MANE Select ENSP00000263126.1:p.Leu311Val
ENST00000263126.2:c.931C>G ENSP00000263126.1:p.Leu311Val
ENST00000380448.5:c.931C>G ENSP00000369814.1:p.Leu311Val
NM_001818.3:c.931C>G NP_001809.3:p.Leu311Val
XM_011519303.1:c.976C>G XP_011517605.1:p.Leu326Val
NM_001818.4:c.931C>G NP_001809.3:p.Leu311Val
NM_001818.5:c.931C>G MANE Select NP_001809.4:p.Leu311Val
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