Canonical Allele Identifier: CA1865438290

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95135463G= , CM000671.2:g.95135463G= GRCh38
NC_000009.11:g.97897745G= , CM000671.1:g.97897745G= GRCh37
NC_000009.10:g.96937566G= NCBI36
NG_011707.1:g.187247C= , LRG_497:g.187247C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.411-11748G= (AOPEP)
ENST00000696261.1:n.1117C= (FANCC)
ENST00000289081.8:c.726C= (FANCC) MANE Select ENSP00000289081.3:p.Leu242=
ENST00000375305.6:c.726C= (FANCC) ENSP00000364454.1:p.Leu242=
ENST00000490972.7:c.726C= (FANCC) ENSP00000479931.1:p.Leu242=
ENST00000649334.1:c.871C= (FANCC) ENSP00000497735.1:n.871C=
ENST00000649701.1:n.441C= (FANCC)
ENST00000289081.7:c.726C= (FANCC) ENSP00000289081.3:p.Leu242=
ENST00000375305.5:c.726C= (FANCC) ENSP00000364454.1:p.Leu242=
ENST00000477942.5:n.81C= (FANCC)
ENST00000490972.6:c.726C= (FANCC) ENSP00000479931.1:p.Leu242=
NM_000136.2:c.726C= , LRG_497t1:c.726C= (FANCC) NP_000127.2:p.Leu242=
NM_001243743.1:c.726C= (FANCC) NP_001230672.1:p.Leu242=
NM_001243744.1:c.726C= (FANCC) NP_001230673.1:p.Leu242=
XM_005251802.2:c.45C= (FANCC) XP_005251859.1:p.Leu15=
XM_006717001.1:c.561C= (FANCC) XP_006717064.1:p.Leu187=
XM_006717002.2:c.726C= (FANCC) XP_006717065.1:p.Leu242=
XM_006717004.2:c.726C= (FANCC) XP_006717067.1:p.Leu242=
XM_011518365.1:c.726C= (FANCC) XP_011516667.1:p.Leu242=
XM_011518366.1:c.726C= (FANCC) XP_011516668.1:p.Leu242=
XM_011518367.1:c.270C= (FANCC) XP_011516669.1:p.Leu90=
XM_011519121.1:c.2320-11748G= (AOPEP) XP_011517423.1:n.2320-11748G=
XM_005251802.3:c.45C= (FANCC) XP_005251859.1:p.Leu15=
XM_006717001.3:c.561C= (FANCC) XP_006717064.1:p.Leu187=
XM_006717002.4:c.726C= (FANCC) XP_006717065.1:p.Leu242=
XM_006717004.4:c.726C= (FANCC) XP_006717067.1:p.Leu242=
XM_011518365.3:c.726C= (FANCC) XP_011516667.1:p.Leu242=
XM_011518366.3:c.726C= (FANCC) XP_011516668.1:p.Leu242=
XM_011518367.2:c.270C= (FANCC) XP_011516669.1:p.Leu90=
XM_011519121.3:c.2320-11748G= (AOPEP) XP_011517423.1:n.2320-11748G=
XM_017014452.2:c.270C= (FANCC) XP_016869941.1:p.Leu90=
XM_017014453.1:c.270C= (FANCC) XP_016869942.1:p.Leu90=
XM_017014454.1:c.105C= (FANCC) XP_016869943.1:p.Leu35=
XM_024447451.1:c.726C= (FANCC) XP_024303219.1:p.Leu242=
NM_000136.3:c.726C= (FANCC) MANE Select NP_000127.2:p.Leu242=
NM_001243743.2:c.726C= (FANCC) NP_001230672.1:p.Leu242=
NM_001243744.2:c.726C= (FANCC) NP_001230673.1:p.Leu242=