Canonical Allele Identifier: CA363773250
Gene: FANCE HGNC NCBI

Linked Data

dbSNP Id: rs150278839
gnomAD v2: 6-35423874-G-T
gnomAD v4: 6-35456097-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456097G>T , CM000668.2:g.35456097G>T GRCh38
NC_000006.11:g.35423874G>T , CM000668.1:g.35423874G>T GRCh37
NC_000006.10:g.35531852G>T NCBI36
NG_011708.1:g.8737G>T , LRG_498:g.8737G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.599G>T ENSP00000512511.1:p.Arg200Leu
ENST00000696265.1:c.599G>T ENSP00000512512.1:p.Arg200Leu
ENST00000696266.1:c.317G>T ENSP00000512513.1:p.Arg106Leu
ENST00000696267.1:n.239G>T
ENST00000229769.3:c.599G>T MANE Select ENSP00000229769.2:p.Arg200Leu
ENST00000648059.1:c.599G>T ENSP00000497902.1:p.Arg200Leu
ENST00000229769.2:c.599G>T ENSP00000229769.2:p.Arg200Leu
NM_021922.2:c.599G>T , LRG_498t1:c.599G>T NP_068741.1:p.Arg200Leu
XM_005248885.2:c.599G>T XP_005248942.1:p.Arg200Leu
XM_005248886.2:c.599G>T XP_005248943.1:p.Arg200Leu
XM_005248887.2:c.599G>T XP_005248944.1:p.Arg200Leu
XM_005248888.2:c.599G>T XP_005248945.1:p.Arg200Leu
XM_011514343.1:c.305G>T XP_011512645.1:p.Arg102Leu
XM_011514344.1:c.305G>T XP_011512646.1:p.Arg102Leu
XM_005248888.3:c.599G>T XP_005248945.1:p.Arg200Leu
XM_011514343.2:c.305G>T XP_011512645.1:p.Arg102Leu
XR_001743226.1:n.806G>T
XR_002956267.1:n.806G>T
NM_021922.3:c.599G>T MANE Select NP_068741.1:p.Arg200Leu