Canonical Allele Identifier: CA2499220012

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1075326
• ClinVar RCV Id: RCV001388886
• dbSNP Id: rs2136048818

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95240659_95240680dup , CM000671.2:g.95240659_95240680dup	GRCh38
NC_000009.11:g.98002941_98002962dup , CM000671.1:g.98002941_98002962dup	GRCh37
NC_000009.10:g.97042762_97042783dup	NCBI36
NG_011707.1:g.82035_82056dup , LRG_497:g.82035_82056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.565_586dup
ENST00000696262.1:c.319_340dup	ENSP00000512510.1:p.Ile114ThrfsTer5
ENST00000289081.8:c.319_340dup MANE Select	ENSP00000289081.3:p.Ile114ThrfsTer5
ENST00000375305.6:c.319_340dup	ENSP00000364454.1:p.Ile114ThrfsTer5
ENST00000490972.7:c.319_340dup	ENSP00000479931.1:p.Ile114ThrfsTer5
ENST00000636777.1:n.377_398dup
ENST00000647778.1:c.319_340dup	ENSP00000498125.1:p.Ile114ThrfsTer5
ENST00000647882.1:c.319_340dup	ENSP00000497025.1:p.Ile114ThrfsTer5
ENST00000648415.1:n.1957_1978dup
ENST00000649334.1:c.319_340dup	ENSP00000497735.1:p.Ile114ThrfsTer5
ENST00000649519.1:c.319_340dup	ENSP00000497630.1:p.Ile114ThrfsTer5
ENST00000649701.1:n.34_55dup
ENST00000649872.1:c.319_340dup	ENSP00000497195.1:p.Ile114ThrfsTer5
ENST00000650176.1:n.499_520dup
ENST00000289081.7:c.319_340dup	ENSP00000289081.3:p.Ile114ThrfsTer5
ENST00000375305.5:c.319_340dup	ENSP00000364454.1:p.Ile114ThrfsTer5
ENST00000433829.1:c.319_340dup	ENSP00000406908.1:p.Ile114ThrfsTer5
ENST00000474949.1:n.581_602dup
ENST00000490972.6:c.319_340dup	ENSP00000479931.1:p.Ile114ThrfsTer5
NM_000136.2:c.319_340dup , LRG_497t1:c.319_340dup	NP_000127.2:p.Ile114ThrfsTer5
NM_001243743.1:c.319_340dup	NP_001230672.1:p.Ile114ThrfsTer5
NM_001243744.1:c.319_340dup	NP_001230673.1:p.Ile114ThrfsTer5
XM_006717001.1:c.319_340dup	XP_006717064.1:p.Ile114ThrfsTer5
XM_006717002.2:c.319_340dup	XP_006717065.1:p.Ile114ThrfsTer5
XM_006717004.2:c.319_340dup	XP_006717067.1:p.Ile114ThrfsTer5
XM_011518365.1:c.319_340dup	XP_011516667.1:p.Ile114ThrfsTer5
XM_011518366.1:c.319_340dup	XP_011516668.1:p.Ile114ThrfsTer5
XM_011518367.1:c.-283_-262dup	XP_011516669.1:n.-283_-262dup
XM_006717001.3:c.319_340dup	XP_006717064.1:p.Ile114ThrfsTer5
XM_006717002.4:c.319_340dup	XP_006717065.1:p.Ile114ThrfsTer5
XM_006717004.4:c.319_340dup	XP_006717067.1:p.Ile114ThrfsTer5
XM_011518365.3:c.319_340dup	XP_011516667.1:p.Ile114ThrfsTer5
XM_011518366.3:c.319_340dup	XP_011516668.1:p.Ile114ThrfsTer5
XM_011518367.2:c.-283_-262dup	XP_011516669.1:n.-283_-262dup
XM_017014452.2:c.-283_-262dup	XP_016869941.1:n.-283_-262dup
XM_017014453.1:c.-283_-262dup	XP_016869942.1:n.-283_-262dup
XM_017014454.1:c.-283_-262dup	XP_016869943.1:n.-283_-262dup
XM_024447451.1:c.319_340dup	XP_024303219.1:p.Ile114ThrfsTer5
NM_000136.3:c.319_340dup MANE Select	NP_000127.2:p.Ile114ThrfsTer5
NM_001243743.2:c.319_340dup	NP_001230672.1:p.Ile114ThrfsTer5
NM_001243744.2:c.319_340dup	NP_001230673.1:p.Ile114ThrfsTer5