Canonical Allele Identifier: CA374338559
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 526414
ClinVar RCV Id: RCV000630939
dbSNP Id: rs1554842592
gnomAD v4: 9-95171089-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171089T>C , CM000671.2:g.95171089T>C GRCh38
NC_000009.11:g.97933371T>C , CM000671.1:g.97933371T>C GRCh37
NC_000009.10:g.96973192T>C NCBI36
NG_011707.1:g.151621A>G , LRG_497:g.151621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.902A>G
ENST00000289081.8:c.511A>G MANE Select ENSP00000289081.3:p.Thr171Ala
ENST00000375305.6:c.511A>G ENSP00000364454.1:p.Thr171Ala
ENST00000490972.7:c.511A>G ENSP00000479931.1:p.Thr171Ala
ENST00000636777.1:n.569A>G
ENST00000649334.1:c.656A>G ENSP00000497735.1:n.656A>G
ENST00000649701.1:n.226A>G
ENST00000289081.7:c.511A>G ENSP00000289081.3:p.Thr171Ala
ENST00000375305.5:c.511A>G ENSP00000364454.1:p.Thr171Ala
ENST00000490972.6:c.511A>G ENSP00000479931.1:p.Thr171Ala
NM_000136.2:c.511A>G , LRG_497t1:c.511A>G NP_000127.2:p.Thr171Ala
NM_001243743.1:c.511A>G NP_001230672.1:p.Thr171Ala
NM_001243744.1:c.511A>G NP_001230673.1:p.Thr171Ala
XM_006717001.1:c.511A>G XP_006717064.1:p.Thr171Ala
XM_006717002.2:c.511A>G XP_006717065.1:p.Thr171Ala
XM_006717004.2:c.511A>G XP_006717067.1:p.Thr171Ala
XM_011518365.1:c.511A>G XP_011516667.1:p.Thr171Ala
XM_011518366.1:c.511A>G XP_011516668.1:p.Thr171Ala
XM_011518367.1:c.55A>G XP_011516669.1:p.Thr19Ala
XM_006717001.3:c.511A>G XP_006717064.1:p.Thr171Ala
XM_006717002.4:c.511A>G XP_006717065.1:p.Thr171Ala
XM_006717004.4:c.511A>G XP_006717067.1:p.Thr171Ala
XM_011518365.3:c.511A>G XP_011516667.1:p.Thr171Ala
XM_011518366.3:c.511A>G XP_011516668.1:p.Thr171Ala
XM_011518367.2:c.55A>G XP_011516669.1:p.Thr19Ala
XM_017014452.2:c.55A>G XP_016869941.1:p.Thr19Ala
XM_017014453.1:c.55A>G XP_016869942.1:p.Thr19Ala
XM_017014454.1:c.55A>G XP_016869943.1:p.Thr19Ala
XM_024447451.1:c.511A>G XP_024303219.1:p.Thr171Ala
NM_000136.3:c.511A>G MANE Select NP_000127.2:p.Thr171Ala
NM_001243743.2:c.511A>G NP_001230672.1:p.Thr171Ala
NM_001243744.2:c.511A>G NP_001230673.1:p.Thr171Ala