Canonical Allele Identifier: CA299134

Linked Data

ClinVar Variation Id: 182467
dbSNP Id: rs730881709

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111490dup , CM000671.2:g.95111490dup GRCh38
NC_000009.11:g.97873772dup , CM000671.1:g.97873772dup GRCh37
NC_000009.10:g.96913593dup NCBI36
NG_011707.1:g.211220dup , LRG_497:g.211220dup

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.410+30710dup (AOPEP)
ENST00000696260.1:n.2117dup (FANCC)
ENST00000289081.8:c.1302dup (FANCC) MANE Select ENSP00000289081.3:p.Gly435TrpfsTer?
ENST00000375305.6:c.1302dup (FANCC) ENSP00000364454.1:p.Gly435TrpfsTer?
ENST00000490972.7:c.1302dup (FANCC) ENSP00000479931.1:p.Gly435TrpfsTer21
ENST00000649334.1:c.1447dup (FANCC) ENSP00000497735.1:n.1447dup
ENST00000289081.7:c.1302dup (FANCC) ENSP00000289081.3:p.Gly435TrpfsTer?
ENST00000375305.5:c.1302dup (FANCC) ENSP00000364454.1:p.Gly435TrpfsTer?
ENST00000464627.5:n.629dup (FANCC)
ENST00000477942.5:n.657dup (FANCC)
ENST00000480712.5:n.487dup (FANCC)
ENST00000490972.6:c.1302dup (FANCC) ENSP00000479931.1:p.Gly435TrpfsTer21
NM_000136.2:c.1302dup , LRG_497t1:c.1302dup (FANCC) NP_000127.2:p.Gly435TrpfsTer?
NM_001243743.1:c.1302dup (FANCC) NP_001230672.1:p.Gly435TrpfsTer?
NM_001243744.1:c.1302dup (FANCC) NP_001230673.1:p.Gly435TrpfsTer21
XM_005251802.2:c.621dup (FANCC) XP_005251859.1:p.Gly208TrpfsTer?
XM_006717001.1:c.1137dup (FANCC) XP_006717064.1:p.Gly380TrpfsTer?
XM_006717002.2:c.1302dup (FANCC) XP_006717065.1:p.Gly435TrpfsTer?
XM_011518365.1:c.1302dup (FANCC) XP_011516667.1:p.Gly435TrpfsTer?
XM_011518366.1:c.1302dup (FANCC) XP_011516668.1:p.Gly435TrpfsTer?
XM_011518367.1:c.846dup (FANCC) XP_011516669.1:p.Gly283TrpfsTer?
XM_011519121.1:c.2319+30710dup (AOPEP) XP_011517423.1:n.2319+30710dup
XM_005251802.3:c.621dup (FANCC) XP_005251859.1:p.Gly208TrpfsTer?
XM_006717001.3:c.1137dup (FANCC) XP_006717064.1:p.Gly380TrpfsTer?
XM_006717002.4:c.1302dup (FANCC) XP_006717065.1:p.Gly435TrpfsTer?
XM_011518365.3:c.1302dup (FANCC) XP_011516667.1:p.Gly435TrpfsTer?
XM_011518366.3:c.1302dup (FANCC) XP_011516668.1:p.Gly435TrpfsTer?
XM_011518367.2:c.846dup (FANCC) XP_011516669.1:p.Gly283TrpfsTer?
XM_011519121.3:c.2319+30710dup (AOPEP) XP_011517423.1:n.2319+30710dup
XM_017014452.2:c.846dup (FANCC) XP_016869941.1:p.Gly283TrpfsTer?
XM_017014453.1:c.846dup (FANCC) XP_016869942.1:p.Gly283TrpfsTer?
XM_017014454.1:c.681dup (FANCC) XP_016869943.1:p.Gly228TrpfsTer?
XM_024447451.1:c.1302dup (FANCC) XP_024303219.1:p.Gly435TrpfsTer?
NM_000136.3:c.1302dup (FANCC) MANE Select NP_000127.2:p.Gly435TrpfsTer?
NM_001243743.2:c.1302dup (FANCC) NP_001230672.1:p.Gly435TrpfsTer?
NM_001243744.2:c.1302dup (FANCC) NP_001230673.1:p.Gly435TrpfsTer21