Canonical Allele Identifier: CA16041343

Linked Data

ClinVar Variation Id: 370120
ClinVar RCV Id: RCV000409572
dbSNP Id: rs1057516248

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95117351dup , CM000671.2:g.95117351dup GRCh38
NC_000009.11:g.97879633dup , CM000671.1:g.97879633dup GRCh37
NC_000009.10:g.96919454dup NCBI36
NG_011707.1:g.205360dup , LRG_497:g.205360dup

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.411-29860dup (AOPEP)
ENST00000289081.8:c.1037dup (FANCC) MANE Select ENSP00000289081.3:p.Ser347IlefsTer27
ENST00000375305.6:c.1037dup (FANCC) ENSP00000364454.1:p.Ser347IlefsTer27
ENST00000490972.7:c.1037dup (FANCC) ENSP00000479931.1:p.Ser347IlefsTer27
ENST00000649334.1:c.1182dup (FANCC) ENSP00000497735.1:n.1182dup
ENST00000289081.7:c.1037dup (FANCC) ENSP00000289081.3:p.Ser347IlefsTer27
ENST00000375305.5:c.1037dup (FANCC) ENSP00000364454.1:p.Ser347IlefsTer27
ENST00000464627.5:n.364dup (FANCC)
ENST00000464653.1:n.1033dup (FANCC)
ENST00000477942.5:n.392dup (FANCC)
ENST00000480712.5:n.222dup (FANCC)
ENST00000490972.6:c.1037dup (FANCC) ENSP00000479931.1:p.Ser347IlefsTer27
NM_000136.2:c.1037dup , LRG_497t1:c.1037dup (FANCC) NP_000127.2:p.Ser347IlefsTer27
NM_001243743.1:c.1037dup (FANCC) NP_001230672.1:p.Ser347IlefsTer27
NM_001243744.1:c.1037dup (FANCC) NP_001230673.1:p.Ser347IlefsTer27
XM_005251802.2:c.356dup (FANCC) XP_005251859.1:p.Ser120IlefsTer27
XM_006717001.1:c.872dup (FANCC) XP_006717064.1:p.Ser292IlefsTer27
XM_006717002.2:c.1037dup (FANCC) XP_006717065.1:p.Ser347IlefsTer27
XM_006717004.2:c.997-2640dup (FANCC) XP_006717067.1:n.997-2640dup
XM_011518365.1:c.1037dup (FANCC) XP_011516667.1:p.Ser347IlefsTer27
XM_011518366.1:c.1037dup (FANCC) XP_011516668.1:p.Ser347IlefsTer27
XM_011518367.1:c.581dup (FANCC) XP_011516669.1:p.Ser195IlefsTer27
XM_011519121.1:c.2320-29860dup (AOPEP) XP_011517423.1:n.2320-29860dup
XM_005251802.3:c.356dup (FANCC) XP_005251859.1:p.Ser120IlefsTer27
XM_006717001.3:c.872dup (FANCC) XP_006717064.1:p.Ser292IlefsTer27
XM_006717002.4:c.1037dup (FANCC) XP_006717065.1:p.Ser347IlefsTer27
XM_006717004.4:c.997-2640dup (FANCC) XP_006717067.1:n.997-2640dup
XM_011518365.3:c.1037dup (FANCC) XP_011516667.1:p.Ser347IlefsTer27
XM_011518366.3:c.1037dup (FANCC) XP_011516668.1:p.Ser347IlefsTer27
XM_011518367.2:c.581dup (FANCC) XP_011516669.1:p.Ser195IlefsTer27
XM_011519121.3:c.2320-29860dup (AOPEP) XP_011517423.1:n.2320-29860dup
XM_017014452.2:c.581dup (FANCC) XP_016869941.1:p.Ser195IlefsTer27
XM_017014453.1:c.581dup (FANCC) XP_016869942.1:p.Ser195IlefsTer27
XM_017014454.1:c.416dup (FANCC) XP_016869943.1:p.Ser140IlefsTer27
XM_024447451.1:c.1037dup (FANCC) XP_024303219.1:p.Ser347IlefsTer27
NM_000136.3:c.1037dup (FANCC) MANE Select NP_000127.2:p.Ser347IlefsTer27
NM_001243743.2:c.1037dup (FANCC) NP_001230672.1:p.Ser347IlefsTer27
NM_001243744.2:c.1037dup (FANCC) NP_001230673.1:p.Ser347IlefsTer27