Canonical Allele Identifier: CA374338593
Gene: FANCC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171104G>T , CM000671.2:g.95171104G>T GRCh38
NC_000009.11:g.97933386G>T , CM000671.1:g.97933386G>T GRCh37
NC_000009.10:g.96973207G>T NCBI36
NG_011707.1:g.151606C>A , LRG_497:g.151606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.887C>A
ENST00000289081.8:c.496C>A MANE Select ENSP00000289081.3:p.Leu166Ile
ENST00000375305.6:c.496C>A ENSP00000364454.1:p.Leu166Ile
ENST00000490972.7:c.496C>A ENSP00000479931.1:p.Leu166Ile
ENST00000636777.1:n.554C>A
ENST00000649334.1:c.641C>A ENSP00000497735.1:n.641C>A
ENST00000649701.1:n.211C>A
ENST00000289081.7:c.496C>A ENSP00000289081.3:p.Leu166Ile
ENST00000375305.5:c.496C>A ENSP00000364454.1:p.Leu166Ile
ENST00000490972.6:c.496C>A ENSP00000479931.1:p.Leu166Ile
NM_000136.2:c.496C>A , LRG_497t1:c.496C>A NP_000127.2:p.Leu166Ile
NM_001243743.1:c.496C>A NP_001230672.1:p.Leu166Ile
NM_001243744.1:c.496C>A NP_001230673.1:p.Leu166Ile
XM_006717001.1:c.496C>A XP_006717064.1:p.Leu166Ile
XM_006717002.2:c.496C>A XP_006717065.1:p.Leu166Ile
XM_006717004.2:c.496C>A XP_006717067.1:p.Leu166Ile
XM_011518365.1:c.496C>A XP_011516667.1:p.Leu166Ile
XM_011518366.1:c.496C>A XP_011516668.1:p.Leu166Ile
XM_011518367.1:c.40C>A XP_011516669.1:p.Leu14Ile
XM_006717001.3:c.496C>A XP_006717064.1:p.Leu166Ile
XM_006717002.4:c.496C>A XP_006717065.1:p.Leu166Ile
XM_006717004.4:c.496C>A XP_006717067.1:p.Leu166Ile
XM_011518365.3:c.496C>A XP_011516667.1:p.Leu166Ile
XM_011518366.3:c.496C>A XP_011516668.1:p.Leu166Ile
XM_011518367.2:c.40C>A XP_011516669.1:p.Leu14Ile
XM_017014452.2:c.40C>A XP_016869941.1:p.Leu14Ile
XM_017014453.1:c.40C>A XP_016869942.1:p.Leu14Ile
XM_017014454.1:c.40C>A XP_016869943.1:p.Leu14Ile
XM_024447451.1:c.496C>A XP_024303219.1:p.Leu166Ile
NM_000136.3:c.496C>A MANE Select NP_000127.2:p.Leu166Ile
NM_001243743.2:c.496C>A NP_001230672.1:p.Leu166Ile
NM_001243744.2:c.496C>A NP_001230673.1:p.Leu166Ile