Canonical Allele Identifier: CA374107350

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111525G>C , CM000671.2:g.95111525G>C GRCh38
NC_000009.11:g.97873807G>C , CM000671.1:g.97873807G>C GRCh37
NC_000009.10:g.96913628G>C NCBI36
NG_011707.1:g.211185C>G , LRG_497:g.211185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+30745G>C (AOPEP)
ENST00000696260.1:n.2082C>G (FANCC)
ENST00000289081.8:c.1267C>G (FANCC) MANE Select ENSP00000289081.3:p.Leu423Val
ENST00000375305.6:c.1267C>G (FANCC) ENSP00000364454.1:p.Leu423Val
ENST00000490972.7:c.1267C>G (FANCC) ENSP00000479931.1:p.Leu423Val
ENST00000649334.1:c.1412C>G (FANCC) ENSP00000497735.1:n.1412C>G
ENST00000289081.7:c.1267C>G (FANCC) ENSP00000289081.3:p.Leu423Val
ENST00000375305.5:c.1267C>G (FANCC) ENSP00000364454.1:p.Leu423Val
ENST00000464627.5:n.594C>G (FANCC)
ENST00000477942.5:n.622C>G (FANCC)
ENST00000480712.5:n.452C>G (FANCC)
ENST00000490972.6:c.1267C>G (FANCC) ENSP00000479931.1:p.Leu423Val
NM_000136.2:c.1267C>G , LRG_497t1:c.1267C>G (FANCC) NP_000127.2:p.Leu423Val
NM_001243743.1:c.1267C>G (FANCC) NP_001230672.1:p.Leu423Val
NM_001243744.1:c.1267C>G (FANCC) NP_001230673.1:p.Leu423Val
XM_005251802.2:c.586C>G (FANCC) XP_005251859.1:p.Leu196Val
XM_006717001.1:c.1102C>G (FANCC) XP_006717064.1:p.Leu368Val
XM_006717002.2:c.1267C>G (FANCC) XP_006717065.1:p.Leu423Val
XM_011518365.1:c.1267C>G (FANCC) XP_011516667.1:p.Leu423Val
XM_011518366.1:c.1267C>G (FANCC) XP_011516668.1:p.Leu423Val
XM_011518367.1:c.811C>G (FANCC) XP_011516669.1:p.Leu271Val
XM_011519121.1:c.2319+30745G>C (AOPEP) XP_011517423.1:n.2319+30745G>C
XM_005251802.3:c.586C>G (FANCC) XP_005251859.1:p.Leu196Val
XM_006717001.3:c.1102C>G (FANCC) XP_006717064.1:p.Leu368Val
XM_006717002.4:c.1267C>G (FANCC) XP_006717065.1:p.Leu423Val
XM_011518365.3:c.1267C>G (FANCC) XP_011516667.1:p.Leu423Val
XM_011518366.3:c.1267C>G (FANCC) XP_011516668.1:p.Leu423Val
XM_011518367.2:c.811C>G (FANCC) XP_011516669.1:p.Leu271Val
XM_011519121.3:c.2319+30745G>C (AOPEP) XP_011517423.1:n.2319+30745G>C
XM_017014452.2:c.811C>G (FANCC) XP_016869941.1:p.Leu271Val
XM_017014453.1:c.811C>G (FANCC) XP_016869942.1:p.Leu271Val
XM_017014454.1:c.646C>G (FANCC) XP_016869943.1:p.Leu216Val
XM_024447451.1:c.1267C>G (FANCC) XP_024303219.1:p.Leu423Val
NM_000136.3:c.1267C>G (FANCC) MANE Select NP_000127.2:p.Leu423Val
NM_001243743.2:c.1267C>G (FANCC) NP_001230672.1:p.Leu423Val
NM_001243744.2:c.1267C>G (FANCC) NP_001230673.1:p.Leu423Val