Canonical Allele Identifier: CA374107430

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111567C>A , CM000671.2:g.95111567C>A GRCh38
NC_000009.11:g.97873849C>A , CM000671.1:g.97873849C>A GRCh37
NC_000009.10:g.96913670C>A NCBI36
NG_011707.1:g.211143G>T , LRG_497:g.211143G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+30787C>A (AOPEP)
ENST00000696260.1:n.2040G>T (FANCC)
ENST00000289081.8:c.1225G>T (FANCC) MANE Select ENSP00000289081.3:p.Glu409Ter
ENST00000375305.6:c.1225G>T (FANCC) ENSP00000364454.1:p.Glu409Ter
ENST00000490972.7:c.1225G>T (FANCC) ENSP00000479931.1:p.Glu409Ter
ENST00000649334.1:c.1370G>T (FANCC) ENSP00000497735.1:n.1370G>T
ENST00000289081.7:c.1225G>T (FANCC) ENSP00000289081.3:p.Glu409Ter
ENST00000375305.5:c.1225G>T (FANCC) ENSP00000364454.1:p.Glu409Ter
ENST00000464627.5:n.552G>T (FANCC)
ENST00000477942.5:n.580G>T (FANCC)
ENST00000480712.5:n.410G>T (FANCC)
ENST00000490972.6:c.1225G>T (FANCC) ENSP00000479931.1:p.Glu409Ter
NM_000136.2:c.1225G>T , LRG_497t1:c.1225G>T (FANCC) NP_000127.2:p.Glu409Ter
NM_001243743.1:c.1225G>T (FANCC) NP_001230672.1:p.Glu409Ter
NM_001243744.1:c.1225G>T (FANCC) NP_001230673.1:p.Glu409Ter
XM_005251802.2:c.544G>T (FANCC) XP_005251859.1:p.Glu182Ter
XM_006717001.1:c.1060G>T (FANCC) XP_006717064.1:p.Glu354Ter
XM_006717002.2:c.1225G>T (FANCC) XP_006717065.1:p.Glu409Ter
XM_006717004.2:c.*120G>T (FANCC) XP_006717067.1:n.*120G>T
XM_011518365.1:c.1225G>T (FANCC) XP_011516667.1:p.Glu409Ter
XM_011518366.1:c.1225G>T (FANCC) XP_011516668.1:p.Glu409Ter
XM_011518367.1:c.769G>T (FANCC) XP_011516669.1:p.Glu257Ter
XM_011519121.1:c.2319+30787C>A (AOPEP) XP_011517423.1:n.2319+30787C>A
XM_005251802.3:c.544G>T (FANCC) XP_005251859.1:p.Glu182Ter
XM_006717001.3:c.1060G>T (FANCC) XP_006717064.1:p.Glu354Ter
XM_006717002.4:c.1225G>T (FANCC) XP_006717065.1:p.Glu409Ter
XM_006717004.4:c.*120G>T (FANCC) XP_006717067.1:n.*120G>T
XM_011518365.3:c.1225G>T (FANCC) XP_011516667.1:p.Glu409Ter
XM_011518366.3:c.1225G>T (FANCC) XP_011516668.1:p.Glu409Ter
XM_011518367.2:c.769G>T (FANCC) XP_011516669.1:p.Glu257Ter
XM_011519121.3:c.2319+30787C>A (AOPEP) XP_011517423.1:n.2319+30787C>A
XM_017014452.2:c.769G>T (FANCC) XP_016869941.1:p.Glu257Ter
XM_017014453.1:c.769G>T (FANCC) XP_016869942.1:p.Glu257Ter
XM_017014454.1:c.604G>T (FANCC) XP_016869943.1:p.Glu202Ter
XM_024447451.1:c.1225G>T (FANCC) XP_024303219.1:p.Glu409Ter
NM_000136.3:c.1225G>T (FANCC) MANE Select NP_000127.2:p.Glu409Ter
NM_001243743.2:c.1225G>T (FANCC) NP_001230672.1:p.Glu409Ter
NM_001243744.2:c.1225G>T (FANCC) NP_001230673.1:p.Glu409Ter