Canonical Allele Identifier: CA338142
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 216037
dbSNP Id: rs730881708

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171115_95171116del , CM000671.2:g.95171115_95171116del GRCh38
NC_000009.11:g.97933397_97933398del , CM000671.1:g.97933397_97933398del GRCh37
NC_000009.10:g.96973218_96973219del NCBI36
NG_011707.1:g.151599_151600del , LRG_497:g.151599_151600del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.880_881del
ENST00000289081.8:c.489_490del MANE Select ENSP00000289081.3:p.Asn164SerfsTer3
ENST00000375305.6:c.489_490del ENSP00000364454.1:p.Asn164SerfsTer3
ENST00000490972.7:c.489_490del ENSP00000479931.1:p.Asn164SerfsTer3
ENST00000636777.1:n.547_548del
ENST00000649334.1:c.634_635del ENSP00000497735.1:n.634_635del
ENST00000649701.1:n.204_205del
ENST00000289081.7:c.489_490del ENSP00000289081.3:p.Asn164SerfsTer3
ENST00000375305.5:c.489_490del ENSP00000364454.1:p.Asn164SerfsTer3
ENST00000490972.6:c.489_490del ENSP00000479931.1:p.Asn164SerfsTer3
NM_000136.2:c.489_490del , LRG_497t1:c.489_490del NP_000127.2:p.Asn164SerfsTer3
NM_001243743.1:c.489_490del NP_001230672.1:p.Asn164SerfsTer3
NM_001243744.1:c.489_490del NP_001230673.1:p.Asn164SerfsTer3
XM_006717001.1:c.489_490del XP_006717064.1:p.Asn164SerfsTer3
XM_006717002.2:c.489_490del XP_006717065.1:p.Asn164SerfsTer3
XM_006717004.2:c.489_490del XP_006717067.1:p.Asn164SerfsTer3
XM_011518365.1:c.489_490del XP_011516667.1:p.Asn164SerfsTer3
XM_011518366.1:c.489_490del XP_011516668.1:p.Asn164SerfsTer3
XM_011518367.1:c.33_34del XP_011516669.1:p.Asn12SerfsTer3
XM_006717001.3:c.489_490del XP_006717064.1:p.Asn164SerfsTer3
XM_006717002.4:c.489_490del XP_006717065.1:p.Asn164SerfsTer3
XM_006717004.4:c.489_490del XP_006717067.1:p.Asn164SerfsTer3
XM_011518365.3:c.489_490del XP_011516667.1:p.Asn164SerfsTer3
XM_011518366.3:c.489_490del XP_011516668.1:p.Asn164SerfsTer3
XM_011518367.2:c.33_34del XP_011516669.1:p.Asn12SerfsTer3
XM_017014452.2:c.33_34del XP_016869941.1:p.Asn12SerfsTer3
XM_017014453.1:c.33_34del XP_016869942.1:p.Asn12SerfsTer3
XM_017014454.1:c.33_34del XP_016869943.1:p.Asn12SerfsTer3
XM_024447451.1:c.489_490del XP_024303219.1:p.Asn164SerfsTer3
NM_000136.3:c.489_490del MANE Select NP_000127.2:p.Asn164SerfsTer3
NM_001243743.2:c.489_490del NP_001230672.1:p.Asn164SerfsTer3
NM_001243744.2:c.489_490del NP_001230673.1:p.Asn164SerfsTer3