Canonical Allele Identifier: CA374108045

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95114695T>A , CM000671.2:g.95114695T>A GRCh38
NC_000009.11:g.97876977T>A , CM000671.1:g.97876977T>A GRCh37
NC_000009.10:g.96916798T>A NCBI36
NG_011707.1:g.208015A>T , LRG_497:g.208015A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.411-32516T>A (AOPEP)
ENST00000289081.8:c.1088A>T (FANCC) MANE Select ENSP00000289081.3:p.His363Leu
ENST00000375305.6:c.1088A>T (FANCC) ENSP00000364454.1:p.His363Leu
ENST00000490972.7:c.1088A>T (FANCC) ENSP00000479931.1:p.His363Leu
ENST00000649334.1:c.1233A>T (FANCC) ENSP00000497735.1:n.1233A>T
ENST00000289081.7:c.1088A>T (FANCC) ENSP00000289081.3:p.His363Leu
ENST00000375305.5:c.1088A>T (FANCC) ENSP00000364454.1:p.His363Leu
ENST00000464627.5:n.415A>T (FANCC)
ENST00000464653.1:n.1084A>T (FANCC)
ENST00000477942.5:n.443A>T (FANCC)
ENST00000480712.5:n.273A>T (FANCC)
ENST00000490972.6:c.1088A>T (FANCC) ENSP00000479931.1:p.His363Leu
NM_000136.2:c.1088A>T , LRG_497t1:c.1088A>T (FANCC) NP_000127.2:p.His363Leu
NM_001243743.1:c.1088A>T (FANCC) NP_001230672.1:p.His363Leu
NM_001243744.1:c.1088A>T (FANCC) NP_001230673.1:p.His363Leu
XM_005251802.2:c.407A>T (FANCC) XP_005251859.1:p.His136Leu
XM_006717001.1:c.923A>T (FANCC) XP_006717064.1:p.His308Leu
XM_006717002.2:c.1088A>T (FANCC) XP_006717065.1:p.His363Leu
XM_006717004.2:c.1012A>T (FANCC) XP_006717067.1:p.Thr338Ser
XM_011518365.1:c.1088A>T (FANCC) XP_011516667.1:p.His363Leu
XM_011518366.1:c.1088A>T (FANCC) XP_011516668.1:p.His363Leu
XM_011518367.1:c.632A>T (FANCC) XP_011516669.1:p.His211Leu
XM_011519121.1:c.2320-32516T>A (AOPEP) XP_011517423.1:n.2320-32516T>A
XM_005251802.3:c.407A>T (FANCC) XP_005251859.1:p.His136Leu
XM_006717001.3:c.923A>T (FANCC) XP_006717064.1:p.His308Leu
XM_006717002.4:c.1088A>T (FANCC) XP_006717065.1:p.His363Leu
XM_006717004.4:c.1012A>T (FANCC) XP_006717067.1:p.Thr338Ser
XM_011518365.3:c.1088A>T (FANCC) XP_011516667.1:p.His363Leu
XM_011518366.3:c.1088A>T (FANCC) XP_011516668.1:p.His363Leu
XM_011518367.2:c.632A>T (FANCC) XP_011516669.1:p.His211Leu
XM_011519121.3:c.2320-32516T>A (AOPEP) XP_011517423.1:n.2320-32516T>A
XM_017014452.2:c.632A>T (FANCC) XP_016869941.1:p.His211Leu
XM_017014453.1:c.632A>T (FANCC) XP_016869942.1:p.His211Leu
XM_017014454.1:c.467A>T (FANCC) XP_016869943.1:p.His156Leu
XM_024447451.1:c.1088A>T (FANCC) XP_024303219.1:p.His363Leu
NM_000136.3:c.1088A>T (FANCC) MANE Select NP_000127.2:p.His363Leu
NM_001243743.2:c.1088A>T (FANCC) NP_001230672.1:p.His363Leu
NM_001243744.2:c.1088A>T (FANCC) NP_001230673.1:p.His363Leu