Canonical Allele Identifier: CA466351397

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1663515
• ClinVar RCV Id: RCV002200606
• dbSNP Id: rs2134547152
• gnomAD v4: 9-95111493-A-C
• MyVariant Identifiers: chr9:g.97873775A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111493A>C , CM000671.2:g.95111493A>C	GRCh38
NC_000009.11:g.97873775A>C , CM000671.1:g.97873775A>C	GRCh37
NC_000009.10:g.96913596A>C	NCBI36
NG_011707.1:g.211217T>G , LRG_497:g.211217T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30713A>C (AOPEP)
ENST00000696260.1:n.2114T>G (FANCC)
ENST00000289081.8:c.1299T>G (FANCC) MANE Select	ENSP00000289081.3:p.Arg433=
ENST00000375305.6:c.1299T>G (FANCC)	ENSP00000364454.1:p.Arg433=
ENST00000490972.7:c.1299T>G (FANCC)	ENSP00000479931.1:p.Arg433=
ENST00000649334.1:c.1444T>G (FANCC)	ENSP00000497735.1:n.1444T>G
ENST00000289081.7:c.1299T>G (FANCC)	ENSP00000289081.3:p.Arg433=
ENST00000375305.5:c.1299T>G (FANCC)	ENSP00000364454.1:p.Arg433=
ENST00000464627.5:n.626T>G (FANCC)
ENST00000477942.5:n.654T>G (FANCC)
ENST00000480712.5:n.484T>G (FANCC)
ENST00000490972.6:c.1299T>G (FANCC)	ENSP00000479931.1:p.Arg433=
NM_000136.2:c.1299T>G , LRG_497t1:c.1299T>G (FANCC)	NP_000127.2:p.Arg433=
NM_001243743.1:c.1299T>G (FANCC)	NP_001230672.1:p.Arg433=
NM_001243744.1:c.1299T>G (FANCC)	NP_001230673.1:p.Arg433=
XM_005251802.2:c.618T>G (FANCC)	XP_005251859.1:p.Arg206=
XM_006717001.1:c.1134T>G (FANCC)	XP_006717064.1:p.Arg378=
XM_006717002.2:c.1299T>G (FANCC)	XP_006717065.1:p.Arg433=
XM_011518365.1:c.1299T>G (FANCC)	XP_011516667.1:p.Arg433=
XM_011518366.1:c.1299T>G (FANCC)	XP_011516668.1:p.Arg433=
XM_011518367.1:c.843T>G (FANCC)	XP_011516669.1:p.Arg281=
XM_011519121.1:c.2319+30713A>C (AOPEP)	XP_011517423.1:n.2319+30713A>C
XM_005251802.3:c.618T>G (FANCC)	XP_005251859.1:p.Arg206=
XM_006717001.3:c.1134T>G (FANCC)	XP_006717064.1:p.Arg378=
XM_006717002.4:c.1299T>G (FANCC)	XP_006717065.1:p.Arg433=
XM_011518365.3:c.1299T>G (FANCC)	XP_011516667.1:p.Arg433=
XM_011518366.3:c.1299T>G (FANCC)	XP_011516668.1:p.Arg433=
XM_011518367.2:c.843T>G (FANCC)	XP_011516669.1:p.Arg281=
XM_011519121.3:c.2319+30713A>C (AOPEP)	XP_011517423.1:n.2319+30713A>C
XM_017014452.2:c.843T>G (FANCC)	XP_016869941.1:p.Arg281=
XM_017014453.1:c.843T>G (FANCC)	XP_016869942.1:p.Arg281=
XM_017014454.1:c.678T>G (FANCC)	XP_016869943.1:p.Arg226=
XM_024447451.1:c.1299T>G (FANCC)	XP_024303219.1:p.Arg433=
NM_000136.3:c.1299T>G (FANCC) MANE Select	NP_000127.2:p.Arg433=
NM_001243743.2:c.1299T>G (FANCC)	NP_001230672.1:p.Arg433=
NM_001243744.2:c.1299T>G (FANCC)	NP_001230673.1:p.Arg433=