Canonical Allele Identifier: CA374107496

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111596T>C , CM000671.2:g.95111596T>C GRCh38
NC_000009.11:g.97873878T>C , CM000671.1:g.97873878T>C GRCh37
NC_000009.10:g.96913699T>C NCBI36
NG_011707.1:g.211114A>G , LRG_497:g.211114A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+30816T>C (AOPEP)
ENST00000696260.1:n.2011A>G (FANCC)
ENST00000289081.8:c.1196A>G (FANCC) MANE Select ENSP00000289081.3:p.His399Arg
ENST00000375305.6:c.1196A>G (FANCC) ENSP00000364454.1:p.His399Arg
ENST00000490972.7:c.1196A>G (FANCC) ENSP00000479931.1:p.His399Arg
ENST00000649334.1:c.1341A>G (FANCC) ENSP00000497735.1:n.1341A>G
ENST00000289081.7:c.1196A>G (FANCC) ENSP00000289081.3:p.His399Arg
ENST00000375305.5:c.1196A>G (FANCC) ENSP00000364454.1:p.His399Arg
ENST00000464627.5:n.523A>G (FANCC)
ENST00000477942.5:n.551A>G (FANCC)
ENST00000480712.5:n.381A>G (FANCC)
ENST00000490972.6:c.1196A>G (FANCC) ENSP00000479931.1:p.His399Arg
NM_000136.2:c.1196A>G , LRG_497t1:c.1196A>G (FANCC) NP_000127.2:p.His399Arg
NM_001243743.1:c.1196A>G (FANCC) NP_001230672.1:p.His399Arg
NM_001243744.1:c.1196A>G (FANCC) NP_001230673.1:p.His399Arg
XM_005251802.2:c.515A>G (FANCC) XP_005251859.1:p.His172Arg
XM_006717001.1:c.1031A>G (FANCC) XP_006717064.1:p.His344Arg
XM_006717002.2:c.1196A>G (FANCC) XP_006717065.1:p.His399Arg
XM_006717004.2:c.*91A>G (FANCC) XP_006717067.1:n.*91A>G
XM_011518365.1:c.1196A>G (FANCC) XP_011516667.1:p.His399Arg
XM_011518366.1:c.1196A>G (FANCC) XP_011516668.1:p.His399Arg
XM_011518367.1:c.740A>G (FANCC) XP_011516669.1:p.His247Arg
XM_011519121.1:c.2319+30816T>C (AOPEP) XP_011517423.1:n.2319+30816T>C
XM_005251802.3:c.515A>G (FANCC) XP_005251859.1:p.His172Arg
XM_006717001.3:c.1031A>G (FANCC) XP_006717064.1:p.His344Arg
XM_006717002.4:c.1196A>G (FANCC) XP_006717065.1:p.His399Arg
XM_006717004.4:c.*91A>G (FANCC) XP_006717067.1:n.*91A>G
XM_011518365.3:c.1196A>G (FANCC) XP_011516667.1:p.His399Arg
XM_011518366.3:c.1196A>G (FANCC) XP_011516668.1:p.His399Arg
XM_011518367.2:c.740A>G (FANCC) XP_011516669.1:p.His247Arg
XM_011519121.3:c.2319+30816T>C (AOPEP) XP_011517423.1:n.2319+30816T>C
XM_017014452.2:c.740A>G (FANCC) XP_016869941.1:p.His247Arg
XM_017014453.1:c.740A>G (FANCC) XP_016869942.1:p.His247Arg
XM_017014454.1:c.575A>G (FANCC) XP_016869943.1:p.His192Arg
XM_024447451.1:c.1196A>G (FANCC) XP_024303219.1:p.His399Arg
NM_000136.3:c.1196A>G (FANCC) MANE Select NP_000127.2:p.His399Arg
NM_001243743.2:c.1196A>G (FANCC) NP_001230672.1:p.His399Arg
NM_001243744.2:c.1196A>G (FANCC) NP_001230673.1:p.His399Arg