Canonical Allele Identifier: CA363775095
Community Standard Title: NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35458330C>T , CM000668.2:g.35458330C>T GRCh38
NC_000006.11:g.35426107C>T , CM000668.1:g.35426107C>T GRCh37
NC_000006.10:g.35534085C>T NCBI36
NG_011708.1:g.10970C>T , LRG_498:g.10970C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021922.3:c.1003C>T MANE Select NP_068741.1:p.Gln335Ter
ENST00000229769.3:c.1003C>T MANE Select ENSP00000229769.2:p.Gln335Ter
NM_021922.2:c.1003C>T , LRG_498t1:c.1003C>T NP_068741.1:p.Gln335Ter
ENST00000229769.2:c.1003C>T ENSP00000229769.2:p.Gln335Ter
ENST00000648059.1:c.1003C>T ENSP00000497902.1:p.Gln335Ter
ENST00000696264.1:c.1003C>T ENSP00000512511.1:p.Gln335Ter
ENST00000696265.1:c.1003C>T ENSP00000512512.1:p.Gln335Ter
ENST00000696266.1:c.652C>T ENSP00000512513.1:p.Gln218Ter
ENST00000696267.1:n.1270C>T
XM_005248885.2:c.982C>T XP_005248942.1:p.Gln328Ter
XM_005248886.2:c.934C>T XP_005248943.1:p.Gln312Ter
XM_005248887.2:c.1003C>T XP_005248944.1:p.Gln335Ter
XM_005248888.2:c.1003C>T XP_005248945.1:p.Gln335Ter
XM_005248888.3:c.1003C>T XP_005248945.1:p.Gln335Ter
XM_011514343.1:c.709C>T XP_011512645.1:p.Gln237Ter
XM_011514343.2:c.709C>T XP_011512645.1:p.Gln237Ter
XM_011514344.1:c.709C>T XP_011512646.1:p.Gln237Ter
XR_001743226.1:n.1210C>T
XR_002956267.1:n.1504C>T