Canonical Allele Identifier: CA466351482

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1582312
• ClinVar RCV Id: RCV002090990 ; RCV002391225
• dbSNP Id: rs747051975
• gnomAD v3: 9-95111544-G-C
• gnomAD v4: 9-95111544-G-C
• MyVariant Identifiers: chr9:g.97873826G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111544G>C , CM000671.2:g.95111544G>C	GRCh38
NC_000009.11:g.97873826G>C , CM000671.1:g.97873826G>C	GRCh37
NC_000009.10:g.96913647G>C	NCBI36
NG_011707.1:g.211166C>G , LRG_497:g.211166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30764G>C (AOPEP)
ENST00000696260.1:n.2063C>G (FANCC)
ENST00000289081.8:c.1248C>G (FANCC) MANE Select	ENSP00000289081.3:p.Ala416=
ENST00000375305.6:c.1248C>G (FANCC)	ENSP00000364454.1:p.Ala416=
ENST00000490972.7:c.1248C>G (FANCC)	ENSP00000479931.1:p.Ala416=
ENST00000649334.1:c.1393C>G (FANCC)	ENSP00000497735.1:n.1393C>G
ENST00000289081.7:c.1248C>G (FANCC)	ENSP00000289081.3:p.Ala416=
ENST00000375305.5:c.1248C>G (FANCC)	ENSP00000364454.1:p.Ala416=
ENST00000464627.5:n.575C>G (FANCC)
ENST00000477942.5:n.603C>G (FANCC)
ENST00000480712.5:n.433C>G (FANCC)
ENST00000490972.6:c.1248C>G (FANCC)	ENSP00000479931.1:p.Ala416=
NM_000136.2:c.1248C>G , LRG_497t1:c.1248C>G (FANCC)	NP_000127.2:p.Ala416=
NM_001243743.1:c.1248C>G (FANCC)	NP_001230672.1:p.Ala416=
NM_001243744.1:c.1248C>G (FANCC)	NP_001230673.1:p.Ala416=
XM_005251802.2:c.567C>G (FANCC)	XP_005251859.1:p.Ala189=
XM_006717001.1:c.1083C>G (FANCC)	XP_006717064.1:p.Ala361=
XM_006717002.2:c.1248C>G (FANCC)	XP_006717065.1:p.Ala416=
XM_011518365.1:c.1248C>G (FANCC)	XP_011516667.1:p.Ala416=
XM_011518366.1:c.1248C>G (FANCC)	XP_011516668.1:p.Ala416=
XM_011518367.1:c.792C>G (FANCC)	XP_011516669.1:p.Ala264=
XM_011519121.1:c.2319+30764G>C (AOPEP)	XP_011517423.1:n.2319+30764G>C
XM_005251802.3:c.567C>G (FANCC)	XP_005251859.1:p.Ala189=
XM_006717001.3:c.1083C>G (FANCC)	XP_006717064.1:p.Ala361=
XM_006717002.4:c.1248C>G (FANCC)	XP_006717065.1:p.Ala416=
XM_006717004.4:c.*143C>G (FANCC)	XP_006717067.1:n.*143C>G
XM_011518365.3:c.1248C>G (FANCC)	XP_011516667.1:p.Ala416=
XM_011518366.3:c.1248C>G (FANCC)	XP_011516668.1:p.Ala416=
XM_011518367.2:c.792C>G (FANCC)	XP_011516669.1:p.Ala264=
XM_011519121.3:c.2319+30764G>C (AOPEP)	XP_011517423.1:n.2319+30764G>C
XM_017014452.2:c.792C>G (FANCC)	XP_016869941.1:p.Ala264=
XM_017014453.1:c.792C>G (FANCC)	XP_016869942.1:p.Ala264=
XM_017014454.1:c.627C>G (FANCC)	XP_016869943.1:p.Ala209=
XM_024447451.1:c.1248C>G (FANCC)	XP_024303219.1:p.Ala416=
NM_000136.3:c.1248C>G (FANCC) MANE Select	NP_000127.2:p.Ala416=
NM_001243743.2:c.1248C>G (FANCC)	NP_001230672.1:p.Ala416=
NM_001243744.2:c.1248C>G (FANCC)	NP_001230673.1:p.Ala416=