Canonical Allele Identifier: CA658797227
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 518016
ClinVar RCV Id: RCV000602566
dbSNP Id: rs1554858394
gnomAD v4: 9-95249297-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249297A>C , CM000671.2:g.95249297A>C GRCh38
NC_000009.11:g.98011579A>C , CM000671.1:g.98011579A>C GRCh37
NC_000009.10:g.97051400A>C NCBI36
NG_011707.1:g.73413T>G , LRG_497:g.73413T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696261.1:n.241T>G
ENST00000696262.1:c.-6T>G ENSP00000512510.1:n.-6T>G
ENST00000696263.1:n.250T>G
ENST00000289081.8:c.-6T>G MANE Select ENSP00000289081.3:n.-6T>G
ENST00000375305.6:c.-6T>G ENSP00000364454.1:n.-6T>G
ENST00000490972.7:c.-6T>G ENSP00000479931.1:n.-6T>G
ENST00000636777.1:n.53T>G
ENST00000647778.1:c.-6T>G ENSP00000498125.1:n.-6T>G
ENST00000647882.1:c.-6T>G ENSP00000497025.1:n.-6T>G
ENST00000648415.1:n.1633T>G
ENST00000649519.1:c.-6T>G ENSP00000497630.1:n.-6T>G
ENST00000649611.1:c.-6T>G ENSP00000497986.1:n.-6T>G
ENST00000650176.1:n.175T>G
ENST00000289081.7:c.-6T>G ENSP00000289081.3:n.-6T>G
ENST00000375305.5:c.-6T>G ENSP00000364454.1:n.-6T>G
ENST00000433829.1:c.-6T>G ENSP00000406908.1:n.-6T>G
ENST00000474949.1:n.257T>G
ENST00000490972.6:c.-6T>G ENSP00000479931.1:n.-6T>G
NM_000136.2:c.-6T>G , LRG_497t1:c.-6T>G NP_000127.2:n.-6T>G
NM_001243743.1:c.-6T>G NP_001230672.1:n.-6T>G
NM_001243744.1:c.-6T>G NP_001230673.1:n.-6T>G
XM_006717001.1:c.-6T>G XP_006717064.1:n.-6T>G
XM_006717002.2:c.-6T>G XP_006717065.1:n.-6T>G
XM_006717004.2:c.-6T>G XP_006717067.1:n.-6T>G
XM_011518365.1:c.-6T>G XP_011516667.1:n.-6T>G
XM_011518366.1:c.-6T>G XP_011516668.1:n.-6T>G
XM_011518367.1:c.-607T>G XP_011516669.1:n.-607T>G
XM_006717001.3:c.-6T>G XP_006717064.1:n.-6T>G
XM_006717002.4:c.-6T>G XP_006717065.1:n.-6T>G
XM_006717004.4:c.-6T>G XP_006717067.1:n.-6T>G
XM_011518365.3:c.-6T>G XP_011516667.1:n.-6T>G
XM_011518366.3:c.-6T>G XP_011516668.1:n.-6T>G
XM_011518367.2:c.-607T>G XP_011516669.1:n.-607T>G
XM_017014452.2:c.-607T>G XP_016869941.1:n.-607T>G
XM_017014453.1:c.-607T>G XP_016869942.1:n.-607T>G
XM_017014454.1:c.-607T>G XP_016869943.1:n.-607T>G
XM_024447451.1:c.-6T>G XP_024303219.1:n.-6T>G
NM_000136.3:c.-6T>G MANE Select NP_000127.2:n.-6T>G
NM_001243743.2:c.-6T>G NP_001230672.1:n.-6T>G
NM_001243744.2:c.-6T>G NP_001230673.1:n.-6T>G