Canonical Allele Identifier: CA374109225

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1447811
• ClinVar RCV Id: RCV001996931 ; RCV002246613 ; RCV002423124
• dbSNP Id: rs55719336
• gnomAD v2: 9-97897655-G-C
• gnomAD v4: 9-95135373-G-C
• MyVariant Identifiers: chr9:g.97897655G>C (hg19) ; chr9:g.95135373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135373G>C , CM000671.2:g.95135373G>C	GRCh38
NC_000009.11:g.97897655G>C , CM000671.1:g.97897655G>C	GRCh37
NC_000009.10:g.96937476G>C	NCBI36
NG_011707.1:g.187337C>G , LRG_497:g.187337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11838G>C (AOPEP)
ENST00000696261.1:n.1207C>G (FANCC)
ENST00000289081.8:c.816C>G (FANCC) MANE Select	ENSP00000289081.3:p.Ile272Met
ENST00000375305.6:c.816C>G (FANCC)	ENSP00000364454.1:p.Ile272Met
ENST00000490972.7:c.816C>G (FANCC)	ENSP00000479931.1:p.Ile272Met
ENST00000649334.1:c.961C>G (FANCC)	ENSP00000497735.1:n.961C>G
ENST00000649701.1:n.531C>G (FANCC)
ENST00000289081.7:c.816C>G (FANCC)	ENSP00000289081.3:p.Ile272Met
ENST00000375305.5:c.816C>G (FANCC)	ENSP00000364454.1:p.Ile272Met
ENST00000477942.5:n.171C>G (FANCC)
ENST00000480712.5:n.1C>G (FANCC)
ENST00000490972.6:c.816C>G (FANCC)	ENSP00000479931.1:p.Ile272Met
NM_000136.2:c.816C>G , LRG_497t1:c.816C>G (FANCC)	NP_000127.2:p.Ile272Met
NM_001243743.1:c.816C>G (FANCC)	NP_001230672.1:p.Ile272Met
NM_001243744.1:c.816C>G (FANCC)	NP_001230673.1:p.Ile272Met
XM_005251802.2:c.135C>G (FANCC)	XP_005251859.1:p.Ile45Met
XM_006717001.1:c.651C>G (FANCC)	XP_006717064.1:p.Ile217Met
XM_006717002.2:c.816C>G (FANCC)	XP_006717065.1:p.Ile272Met
XM_006717004.2:c.816C>G (FANCC)	XP_006717067.1:p.Ile272Met
XM_011518365.1:c.816C>G (FANCC)	XP_011516667.1:p.Ile272Met
XM_011518366.1:c.816C>G (FANCC)	XP_011516668.1:p.Ile272Met
XM_011518367.1:c.360C>G (FANCC)	XP_011516669.1:p.Ile120Met
XM_011519121.1:c.2320-11838G>C (AOPEP)	XP_011517423.1:n.2320-11838G>C
XM_005251802.3:c.135C>G (FANCC)	XP_005251859.1:p.Ile45Met
XM_006717001.3:c.651C>G (FANCC)	XP_006717064.1:p.Ile217Met
XM_006717002.4:c.816C>G (FANCC)	XP_006717065.1:p.Ile272Met
XM_006717004.4:c.816C>G (FANCC)	XP_006717067.1:p.Ile272Met
XM_011518365.3:c.816C>G (FANCC)	XP_011516667.1:p.Ile272Met
XM_011518366.3:c.816C>G (FANCC)	XP_011516668.1:p.Ile272Met
XM_011518367.2:c.360C>G (FANCC)	XP_011516669.1:p.Ile120Met
XM_011519121.3:c.2320-11838G>C (AOPEP)	XP_011517423.1:n.2320-11838G>C
XM_017014452.2:c.360C>G (FANCC)	XP_016869941.1:p.Ile120Met
XM_017014453.1:c.360C>G (FANCC)	XP_016869942.1:p.Ile120Met
XM_017014454.1:c.195C>G (FANCC)	XP_016869943.1:p.Ile65Met
XM_024447451.1:c.816C>G (FANCC)	XP_024303219.1:p.Ile272Met
NM_000136.3:c.816C>G (FANCC) MANE Select	NP_000127.2:p.Ile272Met
NM_001243743.2:c.816C>G (FANCC)	NP_001230672.1:p.Ile272Met
NM_001243744.2:c.816C>G (FANCC)	NP_001230673.1:p.Ile272Met