Canonical Allele Identifier: CA2690792016
Gene: FANCC HGNC NCBI

Linked Data

gnomAD v4: 9-95170975-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95170975C>A , CM000671.2:g.95170975C>A GRCh38
NC_000009.11:g.97933257C>A , CM000671.1:g.97933257C>A GRCh37
NC_000009.10:g.96973078C>A NCBI36
NG_011707.1:g.151735G>T , LRG_497:g.151735G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.912+104G>T
ENST00000289081.8:c.521+104G>T MANE Select ENSP00000289081.3:n.521+104G>T
ENST00000375305.6:c.521+104G>T ENSP00000364454.1:n.521+104G>T
ENST00000490972.7:c.521+104G>T ENSP00000479931.1:n.521+104G>T
ENST00000636777.1:n.579+104G>T
ENST00000649334.1:c.666+104G>T ENSP00000497735.1:n.666+104G>T
ENST00000649701.1:n.236+104G>T
ENST00000289081.7:c.521+104G>T ENSP00000289081.3:n.521+104G>T
ENST00000375305.5:c.521+104G>T ENSP00000364454.1:n.521+104G>T
ENST00000490972.6:c.521+104G>T ENSP00000479931.1:n.521+104G>T
NM_000136.2:c.521+104G>T , LRG_497t1:c.521+104G>T NP_000127.2:n.521+104G>T
NM_001243743.1:c.521+104G>T NP_001230672.1:n.521+104G>T
NM_001243744.1:c.521+104G>T NP_001230673.1:n.521+104G>T
XM_006717001.1:c.521+104G>T XP_006717064.1:n.521+104G>T
XM_006717002.2:c.521+104G>T XP_006717065.1:n.521+104G>T
XM_006717004.2:c.521+104G>T XP_006717067.1:n.521+104G>T
XM_011518365.1:c.521+104G>T XP_011516667.1:n.521+104G>T
XM_011518366.1:c.521+104G>T XP_011516668.1:n.521+104G>T
XM_011518367.1:c.65+104G>T XP_011516669.1:n.65+104G>T
XM_006717001.3:c.521+104G>T XP_006717064.1:n.521+104G>T
XM_006717002.4:c.521+104G>T XP_006717065.1:n.521+104G>T
XM_006717004.4:c.521+104G>T XP_006717067.1:n.521+104G>T
XM_011518365.3:c.521+104G>T XP_011516667.1:n.521+104G>T
XM_011518366.3:c.521+104G>T XP_011516668.1:n.521+104G>T
XM_011518367.2:c.65+104G>T XP_011516669.1:n.65+104G>T
XM_017014452.2:c.65+104G>T XP_016869941.1:n.65+104G>T
XM_017014453.1:c.65+104G>T XP_016869942.1:n.65+104G>T
XM_017014454.1:c.65+104G>T XP_016869943.1:n.65+104G>T
XM_024447451.1:c.521+104G>T XP_024303219.1:n.521+104G>T
NM_000136.3:c.521+104G>T MANE Select NP_000127.2:n.521+104G>T
NM_001243743.2:c.521+104G>T NP_001230672.1:n.521+104G>T
NM_001243744.2:c.521+104G>T NP_001230673.1:n.521+104G>T