Canonical Allele Identifier: CA1139661032
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 929802
ClinVar RCV Id: RCV001195039
dbSNP Id: rs1831183107

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249283_95249284del , CM000671.2:g.95249283_95249284del GRCh38
NC_000009.11:g.98011565_98011566del , CM000671.1:g.98011565_98011566del GRCh37
NC_000009.10:g.97051386_97051387del NCBI36
NG_011707.1:g.73426_73427del , LRG_497:g.73426_73427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.254_255del
ENST00000696262.1:c.8_9del ENSP00000512510.1:p.Gln3ArgfsTer8
ENST00000696263.1:n.263_264del
ENST00000289081.8:c.8_9del MANE Select ENSP00000289081.3:p.Gln3ArgfsTer8
ENST00000375305.6:c.8_9del ENSP00000364454.1:p.Gln3ArgfsTer8
ENST00000490972.7:c.8_9del ENSP00000479931.1:p.Gln3ArgfsTer8
ENST00000636777.1:n.66_67del
ENST00000647778.1:c.8_9del ENSP00000498125.1:p.Gln3ArgfsTer8
ENST00000647882.1:c.8_9del ENSP00000497025.1:p.Gln3ArgfsTer8
ENST00000648415.1:n.1646_1647del
ENST00000649334.1:c.8_9del ENSP00000497735.1:p.Gln3ArgfsTer8
ENST00000649519.1:c.8_9del ENSP00000497630.1:p.Gln3ArgfsTer8
ENST00000649611.1:c.8_9del ENSP00000497986.1:p.Gln3ArgfsTer8
ENST00000649872.1:c.8_9del ENSP00000497195.1:p.Gln3ArgfsTer8
ENST00000650176.1:n.188_189del
ENST00000289081.7:c.8_9del ENSP00000289081.3:p.Gln3ArgfsTer8
ENST00000375305.5:c.8_9del ENSP00000364454.1:p.Gln3ArgfsTer8
ENST00000433829.1:c.8_9del ENSP00000406908.1:p.Gln3ArgfsTer8
ENST00000474949.1:n.270_271del
ENST00000490972.6:c.8_9del ENSP00000479931.1:p.Gln3ArgfsTer8
NM_000136.2:c.8_9del , LRG_497t1:c.8_9del NP_000127.2:p.Gln3ArgfsTer8
NM_001243743.1:c.8_9del NP_001230672.1:p.Gln3ArgfsTer8
NM_001243744.1:c.8_9del NP_001230673.1:p.Gln3ArgfsTer8
XM_006717001.1:c.8_9del XP_006717064.1:p.Gln3ArgfsTer8
XM_006717002.2:c.8_9del XP_006717065.1:p.Gln3ArgfsTer8
XM_006717004.2:c.8_9del XP_006717067.1:p.Gln3ArgfsTer8
XM_011518365.1:c.8_9del XP_011516667.1:p.Gln3ArgfsTer8
XM_011518366.1:c.8_9del XP_011516668.1:p.Gln3ArgfsTer8
XM_011518367.1:c.-594_-593del XP_011516669.1:n.-594_-593del
XM_006717001.3:c.8_9del XP_006717064.1:p.Gln3ArgfsTer8
XM_006717002.4:c.8_9del XP_006717065.1:p.Gln3ArgfsTer8
XM_006717004.4:c.8_9del XP_006717067.1:p.Gln3ArgfsTer8
XM_011518365.3:c.8_9del XP_011516667.1:p.Gln3ArgfsTer8
XM_011518366.3:c.8_9del XP_011516668.1:p.Gln3ArgfsTer8
XM_011518367.2:c.-594_-593del XP_011516669.1:n.-594_-593del
XM_017014452.2:c.-594_-593del XP_016869941.1:n.-594_-593del
XM_017014453.1:c.-594_-593del XP_016869942.1:n.-594_-593del
XM_017014454.1:c.-594_-593del XP_016869943.1:n.-594_-593del
XM_024447451.1:c.8_9del XP_024303219.1:p.Gln3ArgfsTer8
NM_000136.3:c.8_9del MANE Select NP_000127.2:p.Gln3ArgfsTer8
NM_001243743.2:c.8_9del NP_001230672.1:p.Gln3ArgfsTer8
NM_001243744.2:c.8_9del NP_001230673.1:p.Gln3ArgfsTer8