Canonical Allele Identifier: CA466351366

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 512018
• ClinVar RCV Id: RCV001697515 ; RCV002385912
• dbSNP Id: rs1554829450
• gnomAD v4: 9-95111475-T-C
• MyVariant Identifiers: chr9:g.97873757T>C (hg19) ; chr9:g.95111475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111475T>C , CM000671.2:g.95111475T>C	GRCh38
NC_000009.11:g.97873757T>C , CM000671.1:g.97873757T>C	GRCh37
NC_000009.10:g.96913578T>C	NCBI36
NG_011707.1:g.211235A>G , LRG_497:g.211235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30695T>C (AOPEP)
ENST00000696260.1:n.2132A>G (FANCC)
ENST00000289081.8:c.1317A>G (FANCC) MANE Select	ENSP00000289081.3:p.Arg439=
ENST00000375305.6:c.1317A>G (FANCC)	ENSP00000364454.1:p.Arg439=
ENST00000490972.7:c.1317A>G (FANCC)	ENSP00000479931.1:p.Arg439=
ENST00000649334.1:c.1462A>G (FANCC)	ENSP00000497735.1:n.1462A>G
ENST00000289081.7:c.1317A>G (FANCC)	ENSP00000289081.3:p.Arg439=
ENST00000375305.5:c.1317A>G (FANCC)	ENSP00000364454.1:p.Arg439=
ENST00000464627.5:n.644A>G (FANCC)
ENST00000477942.5:n.672A>G (FANCC)
ENST00000480712.5:n.502A>G (FANCC)
ENST00000490972.6:c.1317A>G (FANCC)	ENSP00000479931.1:p.Arg439=
NM_000136.2:c.1317A>G , LRG_497t1:c.1317A>G (FANCC)	NP_000127.2:p.Arg439=
NM_001243743.1:c.1317A>G (FANCC)	NP_001230672.1:p.Arg439=
NM_001243744.1:c.1317A>G (FANCC)	NP_001230673.1:p.Arg439=
XM_005251802.2:c.636A>G (FANCC)	XP_005251859.1:p.Arg212=
XM_006717001.1:c.1152A>G (FANCC)	XP_006717064.1:p.Arg384=
XM_006717002.2:c.1317A>G (FANCC)	XP_006717065.1:p.Arg439=
XM_011518365.1:c.1317A>G (FANCC)	XP_011516667.1:p.Arg439=
XM_011518366.1:c.1317A>G (FANCC)	XP_011516668.1:p.Arg439=
XM_011518367.1:c.861A>G (FANCC)	XP_011516669.1:p.Arg287=
XM_011519121.1:c.2319+30695T>C (AOPEP)	XP_011517423.1:n.2319+30695T>C
XM_005251802.3:c.636A>G (FANCC)	XP_005251859.1:p.Arg212=
XM_006717001.3:c.1152A>G (FANCC)	XP_006717064.1:p.Arg384=
XM_006717002.4:c.1317A>G (FANCC)	XP_006717065.1:p.Arg439=
XM_011518365.3:c.1317A>G (FANCC)	XP_011516667.1:p.Arg439=
XM_011518366.3:c.1317A>G (FANCC)	XP_011516668.1:p.Arg439=
XM_011518367.2:c.861A>G (FANCC)	XP_011516669.1:p.Arg287=
XM_011519121.3:c.2319+30695T>C (AOPEP)	XP_011517423.1:n.2319+30695T>C
XM_017014452.2:c.861A>G (FANCC)	XP_016869941.1:p.Arg287=
XM_017014453.1:c.861A>G (FANCC)	XP_016869942.1:p.Arg287=
XM_017014454.1:c.696A>G (FANCC)	XP_016869943.1:p.Arg232=
XM_024447451.1:c.1317A>G (FANCC)	XP_024303219.1:p.Arg439=
NM_000136.3:c.1317A>G (FANCC) MANE Select	NP_000127.2:p.Arg439=
NM_001243743.2:c.1317A>G (FANCC)	NP_001230672.1:p.Arg439=
NM_001243744.2:c.1317A>G (FANCC)	NP_001230673.1:p.Arg439=