Canonical Allele Identifier: CA16041342
Gene: FANCC HGNC NCBI
C9orf3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370987
ClinVar RCV Id: RCV000410408
dbSNP Id: rs1057516919

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95114679_95114680del , CM000671.2:g.95114679_95114680del GRCh38
NC_000009.11:g.97876961_97876962del , CM000671.1:g.97876961_97876962del GRCh37
NC_000009.10:g.96916782_96916783del NCBI36
NG_011707.1:g.208030_208031del , LRG_497:g.208030_208031del

Transcript Alleles

HGVS Amino-acid change
NM_000136.2:c.1103_1104del , LRG_497t1:c.1103_1104del (FANCC) NP_000127.2:p.Leu368GlnfsTer5
NM_001243743.1:c.1103_1104del (FANCC) VV NP_001230672.1:p.Leu368GlnfsTer5
NM_001243744.1:c.1103_1104del (FANCC) VV NP_001230673.1:p.Leu368GlnfsTer5
XM_005251802.2:c.422_423del (FANCC) XP_005251859.1:p.Leu141GlnfsTer5
XM_006717001.1:c.938_939del (FANCC) XP_006717064.1:p.Leu313GlnfsTer5
XM_006717002.2:c.1103_1104del (FANCC) XP_006717065.1:p.Leu368GlnfsTer5
XM_006717004.2:c.1027_1028del (FANCC) XP_006717067.1:p.Ter343LysextTer?
XM_011518365.1:c.1103_1104del (FANCC) XP_011516667.1:p.Leu368GlnfsTer5
XM_011518366.1:c.1103_1104del (FANCC) XP_011516668.1:p.Leu368GlnfsTer5
XM_011518367.1:c.647_648del (FANCC) XP_011516669.1:p.Leu216GlnfsTer5
XM_011519121.1:c.2320-32532_2320-32531del (C9orf3) XP_011517423.1:p.=
XM_005251802.3:c.422_423del (FANCC)
XM_006717001.3:c.938_939del (FANCC)
XM_006717002.4:c.1103_1104del (FANCC)
XM_006717004.4:c.1027_1028del (FANCC)
XM_011518365.3:c.1103_1104del (FANCC)
XM_011518366.3:c.1103_1104del (FANCC)
XM_011518367.2:c.647_648del (FANCC)
XM_011519121.3:c.2320-32532_2320-32531del (C9orf3)
XM_017014452.2:c.647_648del (FANCC) XP_016869941.1:p.Leu216GlnfsTer5
XM_017014453.1:c.647_648del (FANCC) XP_016869942.1:p.Leu216GlnfsTer5
XM_017014454.1:c.482_483del (FANCC) XP_016869943.1:p.Leu161GlnfsTer5
XM_024447451.1:c.1103_1104del (FANCC) XP_024303219.1:p.Leu368GlnfsTer5
ENST00000289081.7:c.1103_1104del ENSP00000289081.3:p.Leu368GlnfsTer5
ENST00000375305.5:c.1103_1104del ENSP00000364454.1:p.Leu368GlnfsTer5
ENST00000464627.5:n.430_431del
ENST00000464653.1:n.1099_1100del
ENST00000477942.5:n.458_459del
ENST00000480712.5:n.288_289del
ENST00000490972.6:c.1103_1104del ENSP00000479931.1:p.Leu368GlnfsTer5