Canonical Allele Identifier: CA2690792223
Gene: FANCC HGNC NCBI

Linked Data

gnomAD v4: 9-95172034-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172034C>G , CM000671.2:g.95172034C>G GRCh38
NC_000009.11:g.97934316C>G , CM000671.1:g.97934316C>G GRCh37
NC_000009.10:g.96974137C>G NCBI36
NG_011707.1:g.150676G>C , LRG_497:g.150676G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696261.1:n.847+3G>C
ENST00000289081.8:c.456+3G>C MANE Select ENSP00000289081.3:n.456+3G>C
ENST00000375305.6:c.456+3G>C ENSP00000364454.1:n.456+3G>C
ENST00000490972.7:c.456+3G>C ENSP00000479931.1:n.456+3G>C
ENST00000636777.1:n.514+3G>C
ENST00000647778.1:c.456+3G>C ENSP00000498125.1:n.456+3G>C
ENST00000649334.1:c.601+3G>C ENSP00000497735.1:n.601+3G>C
ENST00000649701.1:n.171+3G>C
ENST00000289081.7:c.456+3G>C ENSP00000289081.3:n.456+3G>C
ENST00000375305.5:c.456+3G>C ENSP00000364454.1:n.456+3G>C
ENST00000474949.1:n.813+3G>C
ENST00000490972.6:c.456+3G>C ENSP00000479931.1:n.456+3G>C
NM_000136.2:c.456+3G>C , LRG_497t1:c.456+3G>C NP_000127.2:n.456+3G>C
NM_001243743.1:c.456+3G>C NP_001230672.1:n.456+3G>C
NM_001243744.1:c.456+3G>C NP_001230673.1:n.456+3G>C
XM_006717001.1:c.456+3G>C XP_006717064.1:n.456+3G>C
XM_006717002.2:c.456+3G>C XP_006717065.1:n.456+3G>C
XM_006717004.2:c.456+3G>C XP_006717067.1:n.456+3G>C
XM_011518365.1:c.456+3G>C XP_011516667.1:n.456+3G>C
XM_011518366.1:c.456+3G>C XP_011516668.1:n.456+3G>C
XM_011518367.1:c.-1+3G>C XP_011516669.1:n.-1+3G>C
XM_006717001.3:c.456+3G>C XP_006717064.1:n.456+3G>C
XM_006717002.4:c.456+3G>C XP_006717065.1:n.456+3G>C
XM_006717004.4:c.456+3G>C XP_006717067.1:n.456+3G>C
XM_011518365.3:c.456+3G>C XP_011516667.1:n.456+3G>C
XM_011518366.3:c.456+3G>C XP_011516668.1:n.456+3G>C
XM_011518367.2:c.-1+3G>C XP_011516669.1:n.-1+3G>C
XM_017014452.2:c.-1+3G>C XP_016869941.1:n.-1+3G>C
XM_017014453.1:c.-1+3G>C XP_016869942.1:n.-1+3G>C
XM_017014454.1:c.-1+3G>C XP_016869943.1:n.-1+3G>C
XM_024447451.1:c.456+3G>C XP_024303219.1:n.456+3G>C
NM_000136.3:c.456+3G>C MANE Select NP_000127.2:n.456+3G>C
NM_001243743.2:c.456+3G>C NP_001230672.1:n.456+3G>C
NM_001243744.2:c.456+3G>C NP_001230673.1:n.456+3G>C