Canonical Allele Identifier: CA374339234
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 983717
ClinVar RCV Id: RCV001263720
dbSNP Id: rs1830581816
gnomAD v4: 9-95240671-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95240671G>T , CM000671.2:g.95240671G>T GRCh38
NC_000009.11:g.98002953G>T , CM000671.1:g.98002953G>T GRCh37
NC_000009.10:g.97042774G>T NCBI36
NG_011707.1:g.82039C>A , LRG_497:g.82039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.569C>A
ENST00000696262.1:c.323C>A ENSP00000512510.1:p.Ser108Ter
ENST00000289081.8:c.323C>A MANE Select ENSP00000289081.3:p.Ser108Ter
ENST00000375305.6:c.323C>A ENSP00000364454.1:p.Ser108Ter
ENST00000490972.7:c.323C>A ENSP00000479931.1:p.Ser108Ter
ENST00000636777.1:n.381C>A
ENST00000647778.1:c.323C>A ENSP00000498125.1:p.Ser108Ter
ENST00000647882.1:c.323C>A ENSP00000497025.1:p.Ser108Ter
ENST00000648415.1:n.1961C>A
ENST00000649334.1:c.323C>A ENSP00000497735.1:p.Ser108Ter
ENST00000649519.1:c.323C>A ENSP00000497630.1:p.Ser108Ter
ENST00000649701.1:n.38C>A
ENST00000649872.1:c.323C>A ENSP00000497195.1:p.Ser108Ter
ENST00000650176.1:n.503C>A
ENST00000289081.7:c.323C>A ENSP00000289081.3:p.Ser108Ter
ENST00000375305.5:c.323C>A ENSP00000364454.1:p.Ser108Ter
ENST00000433829.1:c.323C>A ENSP00000406908.1:p.Ser108Ter
ENST00000474949.1:n.585C>A
ENST00000490972.6:c.323C>A ENSP00000479931.1:p.Ser108Ter
NM_000136.2:c.323C>A , LRG_497t1:c.323C>A NP_000127.2:p.Ser108Ter
NM_001243743.1:c.323C>A NP_001230672.1:p.Ser108Ter
NM_001243744.1:c.323C>A NP_001230673.1:p.Ser108Ter
XM_006717001.1:c.323C>A XP_006717064.1:p.Ser108Ter
XM_006717002.2:c.323C>A XP_006717065.1:p.Ser108Ter
XM_006717004.2:c.323C>A XP_006717067.1:p.Ser108Ter
XM_011518365.1:c.323C>A XP_011516667.1:p.Ser108Ter
XM_011518366.1:c.323C>A XP_011516668.1:p.Ser108Ter
XM_011518367.1:c.-279C>A XP_011516669.1:n.-279C>A
XM_006717001.3:c.323C>A XP_006717064.1:p.Ser108Ter
XM_006717002.4:c.323C>A XP_006717065.1:p.Ser108Ter
XM_006717004.4:c.323C>A XP_006717067.1:p.Ser108Ter
XM_011518365.3:c.323C>A XP_011516667.1:p.Ser108Ter
XM_011518366.3:c.323C>A XP_011516668.1:p.Ser108Ter
XM_011518367.2:c.-279C>A XP_011516669.1:n.-279C>A
XM_017014452.2:c.-279C>A XP_016869941.1:n.-279C>A
XM_017014453.1:c.-279C>A XP_016869942.1:n.-279C>A
XM_017014454.1:c.-279C>A XP_016869943.1:n.-279C>A
XM_024447451.1:c.323C>A XP_024303219.1:p.Ser108Ter
NM_000136.3:c.323C>A MANE Select NP_000127.2:p.Ser108Ter
NM_001243743.2:c.323C>A NP_001230672.1:p.Ser108Ter
NM_001243744.2:c.323C>A NP_001230673.1:p.Ser108Ter