Canonical Allele Identifier: CA3771465
Gene: FANCE HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35456194G>A
GRCh37 chr6:g.35423971G>A
gnomAD v2:
6:35423971 G / A
gnomAD v3:
6:35456194 G / A
gnomAD v4:
chr6-35456194-G-A
Joint Max Group AF 0.00250134 (AFR)
Genomes Max Group AF 0.00226799 (AFR)
Exomes Max Group AF 0.00251251 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456194G>A , CM000668.2:g.35456194G>A GRCh38
NC_000006.11:g.35423971G>A , CM000668.1:g.35423971G>A GRCh37
NC_000006.10:g.35531949G>A NCBI36
NG_011708.1:g.8834G>A , LRG_498:g.8834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.696G>A ENSP00000512511.1:p.Glu232=
ENST00000696265.1:c.696G>A ENSP00000512512.1:p.Glu232=
ENST00000696266.1:c.414G>A ENSP00000512513.1:p.Glu138=
ENST00000696267.1:n.336G>A
ENST00000229769.3:c.696G>A MANE Select ENSP00000229769.2:p.Glu232=
ENST00000648059.1:c.696G>A ENSP00000497902.1:p.Glu232=
ENST00000229769.2:c.696G>A ENSP00000229769.2:p.Glu232=
NM_021922.2:c.696G>A , LRG_498t1:c.696G>A NP_068741.1:p.Glu232=
XM_005248885.2:c.696G>A XP_005248942.1:p.Glu232=
XM_005248886.2:c.696G>A XP_005248943.1:p.Glu232=
XM_005248887.2:c.696G>A XP_005248944.1:p.Glu232=
XM_005248888.2:c.696G>A XP_005248945.1:p.Glu232=
XM_011514343.1:c.402G>A XP_011512645.1:p.Glu134=
XM_011514344.1:c.402G>A XP_011512646.1:p.Glu134=
XM_005248888.3:c.696G>A XP_005248945.1:p.Glu232=
XM_011514343.2:c.402G>A XP_011512645.1:p.Glu134=
XR_001743226.1:n.903G>A
XR_002956267.1:n.903G>A
NM_021922.3:c.696G>A MANE Select NP_068741.1:p.Glu232=
Search 100 bp 5'
Search 100 bp 3'