Canonical Allele Identifier: CA374340308
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 456150
dbSNP Id: rs778951584
gnomAD v2: 9-98011462-C-G
gnomAD v4: 9-95249180-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249180C>G , CM000671.2:g.95249180C>G GRCh38
NC_000009.11:g.98011462C>G , CM000671.1:g.98011462C>G GRCh37
NC_000009.10:g.97051283C>G NCBI36
NG_011707.1:g.73530G>C , LRG_497:g.73530G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.358G>C
ENST00000696262.1:c.112G>C ENSP00000512510.1:p.Val38Leu
ENST00000696263.1:n.367G>C
ENST00000289081.8:c.112G>C MANE Select ENSP00000289081.3:p.Val38Leu
ENST00000375305.6:c.112G>C ENSP00000364454.1:p.Val38Leu
ENST00000490972.7:c.112G>C ENSP00000479931.1:p.Val38Leu
ENST00000636777.1:n.170G>C
ENST00000647778.1:c.112G>C ENSP00000498125.1:p.Val38Leu
ENST00000647882.1:c.112G>C ENSP00000497025.1:p.Val38Leu
ENST00000648415.1:n.1750G>C
ENST00000649334.1:c.112G>C ENSP00000497735.1:p.Val38Leu
ENST00000649519.1:c.112G>C ENSP00000497630.1:p.Val38Leu
ENST00000649611.1:c.112G>C ENSP00000497986.1:p.Val38Leu
ENST00000649872.1:c.112G>C ENSP00000497195.1:p.Val38Leu
ENST00000650176.1:n.292G>C
ENST00000289081.7:c.112G>C ENSP00000289081.3:p.Val38Leu
ENST00000375305.5:c.112G>C ENSP00000364454.1:p.Val38Leu
ENST00000433829.1:c.112G>C ENSP00000406908.1:p.Val38Leu
ENST00000474949.1:n.374G>C
ENST00000490972.6:c.112G>C ENSP00000479931.1:p.Val38Leu
NM_000136.2:c.112G>C , LRG_497t1:c.112G>C NP_000127.2:p.Val38Leu
NM_001243743.1:c.112G>C NP_001230672.1:p.Val38Leu
NM_001243744.1:c.112G>C NP_001230673.1:p.Val38Leu
XM_006717001.1:c.112G>C XP_006717064.1:p.Val38Leu
XM_006717002.2:c.112G>C XP_006717065.1:p.Val38Leu
XM_006717004.2:c.112G>C XP_006717067.1:p.Val38Leu
XM_011518365.1:c.112G>C XP_011516667.1:p.Val38Leu
XM_011518366.1:c.112G>C XP_011516668.1:p.Val38Leu
XM_011518367.1:c.-490G>C XP_011516669.1:n.-490G>C
XM_006717001.3:c.112G>C XP_006717064.1:p.Val38Leu
XM_006717002.4:c.112G>C XP_006717065.1:p.Val38Leu
XM_006717004.4:c.112G>C XP_006717067.1:p.Val38Leu
XM_011518365.3:c.112G>C XP_011516667.1:p.Val38Leu
XM_011518366.3:c.112G>C XP_011516668.1:p.Val38Leu
XM_011518367.2:c.-490G>C XP_011516669.1:n.-490G>C
XM_017014452.2:c.-490G>C XP_016869941.1:n.-490G>C
XM_017014453.1:c.-490G>C XP_016869942.1:n.-490G>C
XM_017014454.1:c.-490G>C XP_016869943.1:n.-490G>C
XM_024447451.1:c.112G>C XP_024303219.1:p.Val38Leu
NM_000136.3:c.112G>C MANE Select NP_000127.2:p.Val38Leu
NM_001243743.2:c.112G>C NP_001230672.1:p.Val38Leu
NM_001243744.2:c.112G>C NP_001230673.1:p.Val38Leu