Canonical Allele Identifier: CA5137290

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 234672
• ClinVar RCV Id: RCV000214884 ; RCV001012385 ; RCV000543270 ; RCV001355318
• dbSNP Id: rs571668582
• ExAC: 9:97864032 T / C
• gnomAD v2: 9-97864032-T-C
• gnomAD v3: 9-95101750-T-C
• gnomAD v4: 9-95101750-T-C
• MyVariant Identifiers: chr9:g.97864032T>C (hg19) ; chr9:g.95101750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101750T>C , CM000671.2:g.95101750T>C	GRCh38
NC_000009.11:g.97864032T>C , CM000671.1:g.97864032T>C	GRCh37
NC_000009.10:g.96903853T>C	NCBI36
NG_011707.1:g.220960A>G , LRG_497:g.220960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20970T>C (AOPEP)
ENST00000696260.1:n.2449A>G (FANCC)
ENST00000289081.8:c.1634A>G (FANCC) MANE Select	ENSP00000289081.3:p.Lys545Arg
ENST00000375305.6:c.1634A>G (FANCC)	ENSP00000364454.1:p.Lys545Arg
ENST00000649334.1:c.1779A>G (FANCC)	ENSP00000497735.1:n.1779A>G
ENST00000289081.7:c.1634A>G (FANCC)	ENSP00000289081.3:p.Lys545Arg
ENST00000375305.5:c.1634A>G (FANCC)	ENSP00000364454.1:p.Lys545Arg
NM_000136.2:c.1634A>G , LRG_497t1:c.1634A>G (FANCC)	NP_000127.2:p.Lys545Arg
NM_001243743.1:c.1634A>G (FANCC)	NP_001230672.1:p.Lys545Arg
XM_005251802.2:c.953A>G (FANCC)	XP_005251859.1:p.Lys318Arg
XM_006717001.1:c.1469A>G (FANCC)	XP_006717064.1:p.Lys490Arg
XM_011518365.1:c.1634A>G (FANCC)	XP_011516667.1:p.Lys545Arg
XM_011518367.1:c.1178A>G (FANCC)	XP_011516669.1:p.Lys393Arg
XM_011519121.1:c.2319+20970T>C (AOPEP)	XP_011517423.1:n.2319+20970T>C
XM_005251802.3:c.953A>G (FANCC)	XP_005251859.1:p.Lys318Arg
XM_006717001.3:c.1469A>G (FANCC)	XP_006717064.1:p.Lys490Arg
XM_011518365.3:c.1634A>G (FANCC)	XP_011516667.1:p.Lys545Arg
XM_011518367.2:c.1178A>G (FANCC)	XP_011516669.1:p.Lys393Arg
XM_011519121.3:c.2319+20970T>C (AOPEP)	XP_011517423.1:n.2319+20970T>C
XM_017014452.2:c.1178A>G (FANCC)	XP_016869941.1:p.Lys393Arg
XM_017014453.1:c.1178A>G (FANCC)	XP_016869942.1:p.Lys393Arg
XM_017014454.1:c.1013A>G (FANCC)	XP_016869943.1:p.Lys338Arg
XM_024447451.1:c.1634A>G (FANCC)	XP_024303219.1:p.Lys545Arg
NM_000136.3:c.1634A>G (FANCC) MANE Select	NP_000127.2:p.Lys545Arg
NM_001243743.2:c.1634A>G (FANCC)	NP_001230672.1:p.Lys545Arg