Canonical Allele Identifier: CA374105798

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1773180
• ClinVar RCV Id: RCV002396754
• dbSNP Id: rs2134455171
• gnomAD v4: 9-95107137-T-C
• MyVariant Identifiers: chr9:g.97869419T>C (hg19) ; chr9:g.95107137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107137T>C , CM000671.2:g.95107137T>C	GRCh38
NC_000009.11:g.97869419T>C , CM000671.1:g.97869419T>C	GRCh37
NC_000009.10:g.96909240T>C	NCBI36
NG_011707.1:g.215573A>G , LRG_497:g.215573A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26357T>C (AOPEP)
ENST00000696260.1:n.2277A>G (FANCC)
ENST00000289081.8:c.1462A>G (FANCC) MANE Select	ENSP00000289081.3:p.Arg488Gly
ENST00000375305.6:c.1462A>G (FANCC)	ENSP00000364454.1:p.Arg488Gly
ENST00000649334.1:c.1607A>G (FANCC)	ENSP00000497735.1:n.1607A>G
ENST00000289081.7:c.1462A>G (FANCC)	ENSP00000289081.3:p.Arg488Gly
ENST00000375305.5:c.1462A>G (FANCC)	ENSP00000364454.1:p.Arg488Gly
ENST00000464627.5:n.789A>G (FANCC)
NM_000136.2:c.1462A>G , LRG_497t1:c.1462A>G (FANCC)	NP_000127.2:p.Arg488Gly
NM_001243743.1:c.1462A>G (FANCC)	NP_001230672.1:p.Arg488Gly
XM_005251802.2:c.781A>G (FANCC)	XP_005251859.1:p.Arg261Gly
XM_006717001.1:c.1297A>G (FANCC)	XP_006717064.1:p.Arg433Gly
XM_011518365.1:c.1462A>G (FANCC)	XP_011516667.1:p.Arg488Gly
XM_011518367.1:c.1006A>G (FANCC)	XP_011516669.1:p.Arg336Gly
XM_011519121.1:c.2319+26357T>C (AOPEP)	XP_011517423.1:n.2319+26357T>C
XM_005251802.3:c.781A>G (FANCC)	XP_005251859.1:p.Arg261Gly
XM_006717001.3:c.1297A>G (FANCC)	XP_006717064.1:p.Arg433Gly
XM_011518365.3:c.1462A>G (FANCC)	XP_011516667.1:p.Arg488Gly
XM_011518367.2:c.1006A>G (FANCC)	XP_011516669.1:p.Arg336Gly
XM_011519121.3:c.2319+26357T>C (AOPEP)	XP_011517423.1:n.2319+26357T>C
XM_017014452.2:c.1006A>G (FANCC)	XP_016869941.1:p.Arg336Gly
XM_017014453.1:c.1006A>G (FANCC)	XP_016869942.1:p.Arg336Gly
XM_017014454.1:c.841A>G (FANCC)	XP_016869943.1:p.Arg281Gly
XM_024447451.1:c.1462A>G (FANCC)	XP_024303219.1:p.Arg488Gly
XR_001746847.1:n.555T>C
NM_000136.3:c.1462A>G (FANCC) MANE Select	NP_000127.2:p.Arg488Gly
NM_001243743.2:c.1462A>G (FANCC)	NP_001230672.1:p.Arg488Gly