Canonical Allele Identifier: CA3771352
Gene: FANCE HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35452751G>A
GRCh37 chr6:g.35420528G>A
Revel Score:
ENST00000229769 (MANE Select) 0.045
gnomAD v2:
6:35420528 G / A
gnomAD v3:
6:35452751 G / A
gnomAD v4:
chr6-35452751-G-A
Joint Max Group AF 0.00147779 (AFR)
Genomes Max Group AF 0.00127981 (AFR)
Exomes Max Group AF 0.00154966 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35452751G>A , CM000668.2:g.35452751G>A GRCh38
NC_000006.11:g.35420528G>A , CM000668.1:g.35420528G>A GRCh37
NC_000006.10:g.35528506G>A NCBI36
NG_011708.1:g.5391G>A , LRG_498:g.5391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.206G>A ENSP00000512511.1:p.Arg69Gln
ENST00000696265.1:c.206G>A ENSP00000512512.1:p.Arg69Gln
ENST00000229769.3:c.206G>A MANE Select ENSP00000229769.2:p.Arg69Gln
ENST00000648059.1:c.206G>A ENSP00000497902.1:p.Arg69Gln
ENST00000229769.2:c.206G>A ENSP00000229769.2:p.Arg69Gln
NM_021922.2:c.206G>A , LRG_498t1:c.206G>A NP_068741.1:p.Arg69Gln
XM_005248885.2:c.206G>A XP_005248942.1:p.Arg69Gln
XM_005248886.2:c.206G>A XP_005248943.1:p.Arg69Gln
XM_005248887.2:c.206G>A XP_005248944.1:p.Arg69Gln
XM_005248888.2:c.206G>A XP_005248945.1:p.Arg69Gln
XM_011514344.1:c.-118G>A XP_011512646.1:n.-118G>A
XM_005248888.3:c.206G>A XP_005248945.1:p.Arg69Gln
XR_001743226.1:n.413G>A
XR_002956267.1:n.413G>A
NM_021922.3:c.206G>A MANE Select NP_068741.1:p.Arg69Gln
Search 100 bp 5'
Search 100 bp 3'