Canonical Allele Identifier: CA374109785

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95150048A>T , CM000671.2:g.95150048A>T GRCh38
NC_000009.11:g.97912330A>T , CM000671.1:g.97912330A>T GRCh37
NC_000009.10:g.96952151A>T NCBI36
NG_011707.1:g.172662T>A , LRG_497:g.172662T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.3248A>T (AOPEP)
ENST00000696261.1:n.952T>A (FANCC)
ENST00000289081.8:c.561T>A (FANCC) MANE Select ENSP00000289081.3:p.Cys187Ter
ENST00000375305.6:c.561T>A (FANCC) ENSP00000364454.1:p.Cys187Ter
ENST00000490972.7:c.561T>A (FANCC) ENSP00000479931.1:p.Cys187Ter
ENST00000636777.1:n.619T>A (FANCC)
ENST00000649334.1:c.706T>A (FANCC) ENSP00000497735.1:n.706T>A
ENST00000649701.1:n.276T>A (FANCC)
ENST00000289081.7:c.561T>A (FANCC) ENSP00000289081.3:p.Cys187Ter
ENST00000375305.5:c.561T>A (FANCC) ENSP00000364454.1:p.Cys187Ter
ENST00000490972.6:c.561T>A (FANCC) ENSP00000479931.1:p.Cys187Ter
NM_000136.2:c.561T>A , LRG_497t1:c.561T>A (FANCC) NP_000127.2:p.Cys187Ter
NM_001243743.1:c.561T>A (FANCC) NP_001230672.1:p.Cys187Ter
NM_001243744.1:c.561T>A (FANCC) NP_001230673.1:p.Cys187Ter
XM_006717001.1:c.522-14546T>A (FANCC) XP_006717064.1:n.522-14546T>A
XM_006717002.2:c.561T>A (FANCC) XP_006717065.1:p.Cys187Ter
XM_006717004.2:c.561T>A (FANCC) XP_006717067.1:p.Cys187Ter
XM_011518365.1:c.561T>A (FANCC) XP_011516667.1:p.Cys187Ter
XM_011518366.1:c.561T>A (FANCC) XP_011516668.1:p.Cys187Ter
XM_011518367.1:c.105T>A (FANCC) XP_011516669.1:p.Cys35Ter
XM_006717001.3:c.522-14546T>A (FANCC) XP_006717064.1:n.522-14546T>A
XM_006717002.4:c.561T>A (FANCC) XP_006717065.1:p.Cys187Ter
XM_006717004.4:c.561T>A (FANCC) XP_006717067.1:p.Cys187Ter
XM_011518365.3:c.561T>A (FANCC) XP_011516667.1:p.Cys187Ter
XM_011518366.3:c.561T>A (FANCC) XP_011516668.1:p.Cys187Ter
XM_011518367.2:c.105T>A (FANCC) XP_011516669.1:p.Cys35Ter
XM_017014452.2:c.105T>A (FANCC) XP_016869941.1:p.Cys35Ter
XM_017014453.1:c.105T>A (FANCC) XP_016869942.1:p.Cys35Ter
XM_017014454.1:c.66-14546T>A (FANCC) XP_016869943.1:n.66-14546T>A
XM_024447451.1:c.561T>A (FANCC) XP_024303219.1:p.Cys187Ter
NM_000136.3:c.561T>A (FANCC) MANE Select NP_000127.2:p.Cys187Ter
NM_001243743.2:c.561T>A (FANCC) NP_001230672.1:p.Cys187Ter
NM_001243744.2:c.561T>A (FANCC) NP_001230673.1:p.Cys187Ter