Canonical Allele Identifier: CA374109417

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95135462A>T , CM000671.2:g.95135462A>T GRCh38
NC_000009.11:g.97897744A>T , CM000671.1:g.97897744A>T GRCh37
NC_000009.10:g.96937565A>T NCBI36
NG_011707.1:g.187248T>A , LRG_497:g.187248T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.411-11749A>T (AOPEP)
ENST00000696261.1:n.1118T>A (FANCC)
ENST00000289081.8:c.727T>A (FANCC) MANE Select ENSP00000289081.3:p.Trp243Arg
ENST00000375305.6:c.727T>A (FANCC) ENSP00000364454.1:p.Trp243Arg
ENST00000490972.7:c.727T>A (FANCC) ENSP00000479931.1:p.Trp243Arg
ENST00000649334.1:c.872T>A (FANCC) ENSP00000497735.1:n.872T>A
ENST00000649701.1:n.442T>A (FANCC)
ENST00000289081.7:c.727T>A (FANCC) ENSP00000289081.3:p.Trp243Arg
ENST00000375305.5:c.727T>A (FANCC) ENSP00000364454.1:p.Trp243Arg
ENST00000477942.5:n.82T>A (FANCC)
ENST00000490972.6:c.727T>A (FANCC) ENSP00000479931.1:p.Trp243Arg
NM_000136.2:c.727T>A , LRG_497t1:c.727T>A (FANCC) NP_000127.2:p.Trp243Arg
NM_001243743.1:c.727T>A (FANCC) NP_001230672.1:p.Trp243Arg
NM_001243744.1:c.727T>A (FANCC) NP_001230673.1:p.Trp243Arg
XM_005251802.2:c.46T>A (FANCC) XP_005251859.1:p.Trp16Arg
XM_006717001.1:c.562T>A (FANCC) XP_006717064.1:p.Trp188Arg
XM_006717002.2:c.727T>A (FANCC) XP_006717065.1:p.Trp243Arg
XM_006717004.2:c.727T>A (FANCC) XP_006717067.1:p.Trp243Arg
XM_011518365.1:c.727T>A (FANCC) XP_011516667.1:p.Trp243Arg
XM_011518366.1:c.727T>A (FANCC) XP_011516668.1:p.Trp243Arg
XM_011518367.1:c.271T>A (FANCC) XP_011516669.1:p.Trp91Arg
XM_011519121.1:c.2320-11749A>T (AOPEP) XP_011517423.1:n.2320-11749A>T
XM_005251802.3:c.46T>A (FANCC) XP_005251859.1:p.Trp16Arg
XM_006717001.3:c.562T>A (FANCC) XP_006717064.1:p.Trp188Arg
XM_006717002.4:c.727T>A (FANCC) XP_006717065.1:p.Trp243Arg
XM_006717004.4:c.727T>A (FANCC) XP_006717067.1:p.Trp243Arg
XM_011518365.3:c.727T>A (FANCC) XP_011516667.1:p.Trp243Arg
XM_011518366.3:c.727T>A (FANCC) XP_011516668.1:p.Trp243Arg
XM_011518367.2:c.271T>A (FANCC) XP_011516669.1:p.Trp91Arg
XM_011519121.3:c.2320-11749A>T (AOPEP) XP_011517423.1:n.2320-11749A>T
XM_017014452.2:c.271T>A (FANCC) XP_016869941.1:p.Trp91Arg
XM_017014453.1:c.271T>A (FANCC) XP_016869942.1:p.Trp91Arg
XM_017014454.1:c.106T>A (FANCC) XP_016869943.1:p.Trp36Arg
XM_024447451.1:c.727T>A (FANCC) XP_024303219.1:p.Trp243Arg
NM_000136.3:c.727T>A (FANCC) MANE Select NP_000127.2:p.Trp243Arg
NM_001243743.2:c.727T>A (FANCC) NP_001230672.1:p.Trp243Arg
NM_001243744.2:c.727T>A (FANCC) NP_001230673.1:p.Trp243Arg