Canonical Allele Identifier: CA466092086

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 656875
• ClinVar RCV Id: RCV000813387 ; RCV001271435
• dbSNP Id: rs1588008241
• MyVariant Identifiers: chr9:g.97864070T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101788T>C , CM000671.2:g.95101788T>C	GRCh38
NC_000009.11:g.97864070T>C , CM000671.1:g.97864070T>C	GRCh37
NC_000009.10:g.96903891T>C	NCBI36
NG_011707.1:g.220922A>G , LRG_497:g.220922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+21008T>C (AOPEP)
ENST00000696260.1:n.2411A>G (FANCC)
ENST00000289081.8:c.1596A>G (FANCC) MANE Select	ENSP00000289081.3:p.Arg532=
ENST00000375305.6:c.1596A>G (FANCC)	ENSP00000364454.1:p.Arg532=
ENST00000649334.1:c.1741A>G (FANCC)	ENSP00000497735.1:n.1741A>G
ENST00000289081.7:c.1596A>G (FANCC)	ENSP00000289081.3:p.Arg532=
ENST00000375305.5:c.1596A>G (FANCC)	ENSP00000364454.1:p.Arg532=
NM_000136.2:c.1596A>G , LRG_497t1:c.1596A>G (FANCC)	NP_000127.2:p.Arg532=
NM_001243743.1:c.1596A>G (FANCC)	NP_001230672.1:p.Arg532=
XM_005251802.2:c.915A>G (FANCC)	XP_005251859.1:p.Arg305=
XM_006717001.1:c.1431A>G (FANCC)	XP_006717064.1:p.Arg477=
XM_011518365.1:c.1596A>G (FANCC)	XP_011516667.1:p.Arg532=
XM_011518367.1:c.1140A>G (FANCC)	XP_011516669.1:p.Arg380=
XM_011519121.1:c.2319+21008T>C (AOPEP)	XP_011517423.1:n.2319+21008T>C
XM_005251802.3:c.915A>G (FANCC)	XP_005251859.1:p.Arg305=
XM_006717001.3:c.1431A>G (FANCC)	XP_006717064.1:p.Arg477=
XM_011518365.3:c.1596A>G (FANCC)	XP_011516667.1:p.Arg532=
XM_011518367.2:c.1140A>G (FANCC)	XP_011516669.1:p.Arg380=
XM_011519121.3:c.2319+21008T>C (AOPEP)	XP_011517423.1:n.2319+21008T>C
XM_017014452.2:c.1140A>G (FANCC)	XP_016869941.1:p.Arg380=
XM_017014453.1:c.1140A>G (FANCC)	XP_016869942.1:p.Arg380=
XM_017014454.1:c.975A>G (FANCC)	XP_016869943.1:p.Arg325=
XM_024447451.1:c.1596A>G (FANCC)	XP_024303219.1:p.Arg532=
NM_000136.3:c.1596A>G (FANCC) MANE Select	NP_000127.2:p.Arg532=
NM_001243743.2:c.1596A>G (FANCC)	NP_001230672.1:p.Arg532=