Canonical Allele Identifier: CA349588
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 220308
dbSNP Id: rs765990832
gnomAD v2: 9-97934337-A-G
gnomAD v3: 9-95172055-A-G
gnomAD v4: 9-95172055-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172055A>G , CM000671.2:g.95172055A>G GRCh38
NC_000009.11:g.97934337A>G , CM000671.1:g.97934337A>G GRCh37
NC_000009.10:g.96974158A>G NCBI36
NG_011707.1:g.150655T>C , LRG_497:g.150655T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.829T>C
ENST00000289081.8:c.438T>C MANE Select ENSP00000289081.3:p.Tyr146=
ENST00000375305.6:c.438T>C ENSP00000364454.1:p.Tyr146=
ENST00000490972.7:c.438T>C ENSP00000479931.1:p.Tyr146=
ENST00000636777.1:n.496T>C
ENST00000647778.1:c.438T>C ENSP00000498125.1:p.Tyr146=
ENST00000649334.1:c.583T>C ENSP00000497735.1:n.583T>C
ENST00000649701.1:n.153T>C
ENST00000289081.7:c.438T>C ENSP00000289081.3:p.Tyr146=
ENST00000375305.5:c.438T>C ENSP00000364454.1:p.Tyr146=
ENST00000433829.1:c.438T>C ENSP00000406908.1:p.Tyr146=
ENST00000474949.1:n.795T>C
ENST00000490972.6:c.438T>C ENSP00000479931.1:p.Tyr146=
NM_000136.2:c.438T>C , LRG_497t1:c.438T>C NP_000127.2:p.Tyr146=
NM_001243743.1:c.438T>C NP_001230672.1:p.Tyr146=
NM_001243744.1:c.438T>C NP_001230673.1:p.Tyr146=
XM_006717001.1:c.438T>C XP_006717064.1:p.Tyr146=
XM_006717002.2:c.438T>C XP_006717065.1:p.Tyr146=
XM_006717004.2:c.438T>C XP_006717067.1:p.Tyr146=
XM_011518365.1:c.438T>C XP_011516667.1:p.Tyr146=
XM_011518366.1:c.438T>C XP_011516668.1:p.Tyr146=
XM_011518367.1:c.-19T>C XP_011516669.1:n.-19T>C
XM_006717001.3:c.438T>C XP_006717064.1:p.Tyr146=
XM_006717002.4:c.438T>C XP_006717065.1:p.Tyr146=
XM_006717004.4:c.438T>C XP_006717067.1:p.Tyr146=
XM_011518365.3:c.438T>C XP_011516667.1:p.Tyr146=
XM_011518366.3:c.438T>C XP_011516668.1:p.Tyr146=
XM_011518367.2:c.-19T>C XP_011516669.1:n.-19T>C
XM_017014452.2:c.-19T>C XP_016869941.1:n.-19T>C
XM_017014453.1:c.-19T>C XP_016869942.1:n.-19T>C
XM_017014454.1:c.-19T>C XP_016869943.1:n.-19T>C
XM_024447451.1:c.438T>C XP_024303219.1:p.Tyr146=
NM_000136.3:c.438T>C MANE Select NP_000127.2:p.Tyr146=
NM_001243743.2:c.438T>C NP_001230672.1:p.Tyr146=
NM_001243744.2:c.438T>C NP_001230673.1:p.Tyr146=