Canonical Allele Identifier: CA3771596
Community Standard Title: NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35458438C>T , CM000668.2:g.35458438C>T GRCh38
NC_000006.11:g.35426215C>T , CM000668.1:g.35426215C>T GRCh37
NC_000006.10:g.35534193C>T NCBI36
NG_011708.1:g.11078C>T , LRG_498:g.11078C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021922.3:c.1111C>T MANE Select NP_068741.1:p.Arg371Trp
ENST00000229769.3:c.1111C>T MANE Select ENSP00000229769.2:p.Arg371Trp
NM_021922.2:c.1111C>T , LRG_498t1:c.1111C>T NP_068741.1:p.Arg371Trp
ENST00000229769.2:c.1111C>T ENSP00000229769.2:p.Arg371Trp
ENST00000648059.1:c.1111C>T ENSP00000497902.1:p.Arg371Trp
ENST00000696264.1:c.1111C>T ENSP00000512511.1:p.Arg371Trp
ENST00000696265.1:c.1111C>T ENSP00000512512.1:p.Arg371Trp
ENST00000696266.1:c.760C>T ENSP00000512513.1:p.Arg254Trp
ENST00000696267.1:n.1378C>T
XM_005248885.2:c.1090C>T XP_005248942.1:p.Arg364Trp
XM_005248886.2:c.1042C>T XP_005248943.1:p.Arg348Trp
XM_005248887.2:c.1111C>T XP_005248944.1:p.Arg371Trp
XM_005248888.2:c.1111C>T XP_005248945.1:p.Arg371Trp
XM_005248888.3:c.1111C>T XP_005248945.1:p.Arg371Trp
XM_011514343.1:c.817C>T XP_011512645.1:p.Arg273Trp
XM_011514343.2:c.817C>T XP_011512645.1:p.Arg273Trp
XM_011514344.1:c.817C>T XP_011512646.1:p.Arg273Trp
XR_001743226.1:n.1318C>T
XR_002956267.1:n.1612C>T