Canonical Allele Identifier: CA2690791059

Linked Data

gnomAD v4: 9-95135228-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95135228A>T , CM000671.2:g.95135228A>T GRCh38
NC_000009.11:g.97897510A>T , CM000671.1:g.97897510A>T GRCh37
NC_000009.10:g.96937331A>T NCBI36
NG_011707.1:g.187482T>A , LRG_497:g.187482T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.411-11983A>T (AOPEP)
ENST00000696261.1:n.1352T>A (FANCC)
ENST00000289081.8:c.843+118T>A (FANCC) MANE Select ENSP00000289081.3:n.843+118T>A
ENST00000375305.6:c.843+118T>A (FANCC) ENSP00000364454.1:n.843+118T>A
ENST00000490972.7:c.843+118T>A (FANCC) ENSP00000479931.1:n.843+118T>A
ENST00000649334.1:c.988+118T>A (FANCC) ENSP00000497735.1:n.988+118T>A
ENST00000649701.1:n.558+118T>A (FANCC)
ENST00000289081.7:c.843+118T>A (FANCC) ENSP00000289081.3:n.843+118T>A
ENST00000375305.5:c.843+118T>A (FANCC) ENSP00000364454.1:n.843+118T>A
ENST00000477942.5:n.198+118T>A (FANCC)
ENST00000480712.5:n.28+118T>A (FANCC)
ENST00000490972.6:c.843+118T>A (FANCC) ENSP00000479931.1:n.843+118T>A
NM_000136.2:c.843+118T>A , LRG_497t1:c.843+118T>A (FANCC) NP_000127.2:n.843+118T>A
NM_001243743.1:c.843+118T>A (FANCC) NP_001230672.1:n.843+118T>A
NM_001243744.1:c.843+118T>A (FANCC) NP_001230673.1:n.843+118T>A
XM_005251802.2:c.162+118T>A (FANCC) XP_005251859.1:n.162+118T>A
XM_006717001.1:c.678+118T>A (FANCC) XP_006717064.1:n.678+118T>A
XM_006717002.2:c.843+118T>A (FANCC) XP_006717065.1:n.843+118T>A
XM_006717004.2:c.843+118T>A (FANCC) XP_006717067.1:n.843+118T>A
XM_011518365.1:c.843+118T>A (FANCC) XP_011516667.1:n.843+118T>A
XM_011518366.1:c.843+118T>A (FANCC) XP_011516668.1:n.843+118T>A
XM_011518367.1:c.387+118T>A (FANCC) XP_011516669.1:n.387+118T>A
XM_011519121.1:c.2320-11983A>T (AOPEP) XP_011517423.1:n.2320-11983A>T
XM_005251802.3:c.162+118T>A (FANCC) XP_005251859.1:n.162+118T>A
XM_006717001.3:c.678+118T>A (FANCC) XP_006717064.1:n.678+118T>A
XM_006717002.4:c.843+118T>A (FANCC) XP_006717065.1:n.843+118T>A
XM_006717004.4:c.843+118T>A (FANCC) XP_006717067.1:n.843+118T>A
XM_011518365.3:c.843+118T>A (FANCC) XP_011516667.1:n.843+118T>A
XM_011518366.3:c.843+118T>A (FANCC) XP_011516668.1:n.843+118T>A
XM_011518367.2:c.387+118T>A (FANCC) XP_011516669.1:n.387+118T>A
XM_011519121.3:c.2320-11983A>T (AOPEP) XP_011517423.1:n.2320-11983A>T
XM_017014452.2:c.387+118T>A (FANCC) XP_016869941.1:n.387+118T>A
XM_017014453.1:c.387+118T>A (FANCC) XP_016869942.1:n.387+118T>A
XM_017014454.1:c.222+118T>A (FANCC) XP_016869943.1:n.222+118T>A
XM_024447451.1:c.843+118T>A (FANCC) XP_024303219.1:n.843+118T>A
NM_000136.3:c.843+118T>A (FANCC) MANE Select NP_000127.2:n.843+118T>A
NM_001243743.2:c.843+118T>A (FANCC) NP_001230672.1:n.843+118T>A
NM_001243744.2:c.843+118T>A (FANCC) NP_001230673.1:n.843+118T>A