Canonical Allele Identifier: CA287176
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 127527
dbSNP Id: rs587779898
gnomAD v3: 9-95249371-T-C
gnomAD v4: 9-95249371-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249371T>C , CM000671.2:g.95249371T>C GRCh38
NC_000009.11:g.98011653T>C , CM000671.1:g.98011653T>C GRCh37
NC_000009.10:g.97051474T>C NCBI36
NG_011707.1:g.73339A>G , LRG_497:g.73339A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696261.1:n.169-2A>G
ENST00000696262.1:c.-78-2A>G ENSP00000512510.1:n.-78-2A>G
ENST00000696263.1:n.178-2A>G
ENST00000289081.8:c.-78-2A>G MANE Select ENSP00000289081.3:n.-78-2A>G
ENST00000375305.6:c.-78-2A>G ENSP00000364454.1:n.-78-2A>G
ENST00000490972.7:c.-78-2A>G ENSP00000479931.1:n.-78-2A>G
ENST00000636777.1:n.20-41A>G
ENST00000647778.1:c.-78-2A>G ENSP00000498125.1:n.-78-2A>G
ENST00000647882.1:c.-78-2A>G ENSP00000497025.1:n.-78-2A>G
ENST00000648415.1:n.1561-2A>G
ENST00000649519.1:c.-78-2A>G ENSP00000497630.1:n.-78-2A>G
ENST00000649611.1:c.-78-2A>G ENSP00000497986.1:n.-78-2A>G
ENST00000650176.1:n.103-2A>G
ENST00000289081.7:c.-78-2A>G ENSP00000289081.3:n.-78-2A>G
ENST00000375305.5:c.-78-2A>G ENSP00000364454.1:n.-78-2A>G
ENST00000433829.1:c.-78-2A>G ENSP00000406908.1:n.-78-2A>G
ENST00000474949.1:n.185-2A>G
ENST00000490972.6:c.-78-2A>G ENSP00000479931.1:n.-78-2A>G
NM_000136.2:c.-78-2A>G , LRG_497t1:c.-78-2A>G NP_000127.2:n.-78-2A>G
NM_001243743.1:c.-78-2A>G NP_001230672.1:n.-78-2A>G
NM_001243744.1:c.-78-2A>G NP_001230673.1:n.-78-2A>G
XM_006717001.1:c.-78-2A>G XP_006717064.1:n.-78-2A>G
XM_006717002.2:c.-78-2A>G XP_006717065.1:n.-78-2A>G
XM_006717004.2:c.-78-2A>G XP_006717067.1:n.-78-2A>G
XM_011518365.1:c.-78-2A>G XP_011516667.1:n.-78-2A>G
XM_011518366.1:c.-78-2A>G XP_011516668.1:n.-78-2A>G
XM_011518367.1:c.-679-2A>G XP_011516669.1:n.-679-2A>G
XM_006717001.3:c.-78-2A>G XP_006717064.1:n.-78-2A>G
XM_006717002.4:c.-78-2A>G XP_006717065.1:n.-78-2A>G
XM_006717004.4:c.-78-2A>G XP_006717067.1:n.-78-2A>G
XM_011518365.3:c.-78-2A>G XP_011516667.1:n.-78-2A>G
XM_011518366.3:c.-78-2A>G XP_011516668.1:n.-78-2A>G
XM_011518367.2:c.-679-2A>G XP_011516669.1:n.-679-2A>G
XM_017014452.2:c.-679-2A>G XP_016869941.1:n.-679-2A>G
XM_017014453.1:c.-679-2A>G XP_016869942.1:n.-679-2A>G
XM_017014454.1:c.-679-2A>G XP_016869943.1:n.-679-2A>G
XM_024447451.1:c.-78-2A>G XP_024303219.1:n.-78-2A>G
NM_000136.3:c.-78-2A>G MANE Select NP_000127.2:n.-78-2A>G
NM_001243743.2:c.-78-2A>G NP_001230672.1:n.-78-2A>G
NM_001243744.2:c.-78-2A>G NP_001230673.1:n.-78-2A>G