Canonical Allele Identifier: CA10577378
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 234311
dbSNP Id: rs372338418
gnomAD v2: 9-97933410-C-G
gnomAD v3: 9-95171128-C-G
gnomAD v4: 9-95171128-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171128C>G , CM000671.2:g.95171128C>G GRCh38
NC_000009.11:g.97933410C>G , CM000671.1:g.97933410C>G GRCh37
NC_000009.10:g.96973231C>G NCBI36
NG_011707.1:g.151582G>C , LRG_497:g.151582G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.863G>C
ENST00000289081.8:c.472G>C MANE Select ENSP00000289081.3:p.Ala158Pro
ENST00000375305.6:c.472G>C ENSP00000364454.1:p.Ala158Pro
ENST00000490972.7:c.472G>C ENSP00000479931.1:p.Ala158Pro
ENST00000636777.1:n.530G>C
ENST00000649334.1:c.617G>C ENSP00000497735.1:n.617G>C
ENST00000649701.1:n.187G>C
ENST00000289081.7:c.472G>C ENSP00000289081.3:p.Ala158Pro
ENST00000375305.5:c.472G>C ENSP00000364454.1:p.Ala158Pro
ENST00000474949.1:n.829G>C
ENST00000490972.6:c.472G>C ENSP00000479931.1:p.Ala158Pro
NM_000136.2:c.472G>C , LRG_497t1:c.472G>C NP_000127.2:p.Ala158Pro
NM_001243743.1:c.472G>C NP_001230672.1:p.Ala158Pro
NM_001243744.1:c.472G>C NP_001230673.1:p.Ala158Pro
XM_006717001.1:c.472G>C XP_006717064.1:p.Ala158Pro
XM_006717002.2:c.472G>C XP_006717065.1:p.Ala158Pro
XM_006717004.2:c.472G>C XP_006717067.1:p.Ala158Pro
XM_011518365.1:c.472G>C XP_011516667.1:p.Ala158Pro
XM_011518366.1:c.472G>C XP_011516668.1:p.Ala158Pro
XM_011518367.1:c.16G>C XP_011516669.1:p.Ala6Pro
XM_006717001.3:c.472G>C XP_006717064.1:p.Ala158Pro
XM_006717002.4:c.472G>C XP_006717065.1:p.Ala158Pro
XM_006717004.4:c.472G>C XP_006717067.1:p.Ala158Pro
XM_011518365.3:c.472G>C XP_011516667.1:p.Ala158Pro
XM_011518366.3:c.472G>C XP_011516668.1:p.Ala158Pro
XM_011518367.2:c.16G>C XP_011516669.1:p.Ala6Pro
XM_017014452.2:c.16G>C XP_016869941.1:p.Ala6Pro
XM_017014453.1:c.16G>C XP_016869942.1:p.Ala6Pro
XM_017014454.1:c.16G>C XP_016869943.1:p.Ala6Pro
XM_024447451.1:c.472G>C XP_024303219.1:p.Ala158Pro
NM_000136.3:c.472G>C MANE Select NP_000127.2:p.Ala158Pro
NM_001243743.2:c.472G>C NP_001230672.1:p.Ala158Pro
NM_001243744.2:c.472G>C NP_001230673.1:p.Ala158Pro