Canonical Allele Identifier: CA374338773
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 1738564
ClinVar RCV Id: RCV002327775

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172075A>T , CM000671.2:g.95172075A>T GRCh38
NC_000009.11:g.97934357A>T , CM000671.1:g.97934357A>T GRCh37
NC_000009.10:g.96974178A>T NCBI36
NG_011707.1:g.150635T>A , LRG_497:g.150635T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.809T>A
ENST00000289081.8:c.418T>A MANE Select ENSP00000289081.3:p.Tyr140Asn
ENST00000375305.6:c.418T>A ENSP00000364454.1:p.Tyr140Asn
ENST00000490972.7:c.418T>A ENSP00000479931.1:p.Tyr140Asn
ENST00000636777.1:n.476T>A
ENST00000647778.1:c.418T>A ENSP00000498125.1:p.Tyr140Asn
ENST00000649334.1:c.563T>A ENSP00000497735.1:n.563T>A
ENST00000649701.1:n.133T>A
ENST00000289081.7:c.418T>A ENSP00000289081.3:p.Tyr140Asn
ENST00000375305.5:c.418T>A ENSP00000364454.1:p.Tyr140Asn
ENST00000433829.1:c.418T>A ENSP00000406908.1:p.Tyr140Asn
ENST00000474949.1:n.775T>A
ENST00000490972.6:c.418T>A ENSP00000479931.1:p.Tyr140Asn
NM_000136.2:c.418T>A , LRG_497t1:c.418T>A NP_000127.2:p.Tyr140Asn
NM_001243743.1:c.418T>A NP_001230672.1:p.Tyr140Asn
NM_001243744.1:c.418T>A NP_001230673.1:p.Tyr140Asn
XM_006717001.1:c.418T>A XP_006717064.1:p.Tyr140Asn
XM_006717002.2:c.418T>A XP_006717065.1:p.Tyr140Asn
XM_006717004.2:c.418T>A XP_006717067.1:p.Tyr140Asn
XM_011518365.1:c.418T>A XP_011516667.1:p.Tyr140Asn
XM_011518366.1:c.418T>A XP_011516668.1:p.Tyr140Asn
XM_011518367.1:c.-39T>A XP_011516669.1:n.-39T>A
XM_006717001.3:c.418T>A XP_006717064.1:p.Tyr140Asn
XM_006717002.4:c.418T>A XP_006717065.1:p.Tyr140Asn
XM_006717004.4:c.418T>A XP_006717067.1:p.Tyr140Asn
XM_011518365.3:c.418T>A XP_011516667.1:p.Tyr140Asn
XM_011518366.3:c.418T>A XP_011516668.1:p.Tyr140Asn
XM_011518367.2:c.-39T>A XP_011516669.1:n.-39T>A
XM_017014452.2:c.-39T>A XP_016869941.1:n.-39T>A
XM_017014453.1:c.-39T>A XP_016869942.1:n.-39T>A
XM_017014454.1:c.-39T>A XP_016869943.1:n.-39T>A
XM_024447451.1:c.418T>A XP_024303219.1:p.Tyr140Asn
NM_000136.3:c.418T>A MANE Select NP_000127.2:p.Tyr140Asn
NM_001243743.2:c.418T>A NP_001230672.1:p.Tyr140Asn
NM_001243744.2:c.418T>A NP_001230673.1:p.Tyr140Asn