Canonical Allele Identifier: CA374107399

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs2134549751
• MyVariant Identifiers: chr9:g.97873835C>G (hg19) ; chr9:g.95111553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111553C>G , CM000671.2:g.95111553C>G	GRCh38
NC_000009.11:g.97873835C>G , CM000671.1:g.97873835C>G	GRCh37
NC_000009.10:g.96913656C>G	NCBI36
NG_011707.1:g.211157G>C , LRG_497:g.211157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30773C>G (AOPEP)
ENST00000696260.1:n.2054G>C (FANCC)
ENST00000289081.8:c.1239G>C (FANCC) MANE Select	ENSP00000289081.3:p.Met413Ile
ENST00000375305.6:c.1239G>C (FANCC)	ENSP00000364454.1:p.Met413Ile
ENST00000490972.7:c.1239G>C (FANCC)	ENSP00000479931.1:p.Met413Ile
ENST00000649334.1:c.1384G>C (FANCC)	ENSP00000497735.1:n.1384G>C
ENST00000289081.7:c.1239G>C (FANCC)	ENSP00000289081.3:p.Met413Ile
ENST00000375305.5:c.1239G>C (FANCC)	ENSP00000364454.1:p.Met413Ile
ENST00000464627.5:n.566G>C (FANCC)
ENST00000477942.5:n.594G>C (FANCC)
ENST00000480712.5:n.424G>C (FANCC)
ENST00000490972.6:c.1239G>C (FANCC)	ENSP00000479931.1:p.Met413Ile
NM_000136.2:c.1239G>C , LRG_497t1:c.1239G>C (FANCC)	NP_000127.2:p.Met413Ile
NM_001243743.1:c.1239G>C (FANCC)	NP_001230672.1:p.Met413Ile
NM_001243744.1:c.1239G>C (FANCC)	NP_001230673.1:p.Met413Ile
XM_005251802.2:c.558G>C (FANCC)	XP_005251859.1:p.Met186Ile
XM_006717001.1:c.1074G>C (FANCC)	XP_006717064.1:p.Met358Ile
XM_006717002.2:c.1239G>C (FANCC)	XP_006717065.1:p.Met413Ile
XM_006717004.2:c.*134G>C (FANCC)	XP_006717067.1:n.*134G>C
XM_011518365.1:c.1239G>C (FANCC)	XP_011516667.1:p.Met413Ile
XM_011518366.1:c.1239G>C (FANCC)	XP_011516668.1:p.Met413Ile
XM_011518367.1:c.783G>C (FANCC)	XP_011516669.1:p.Met261Ile
XM_011519121.1:c.2319+30773C>G (AOPEP)	XP_011517423.1:n.2319+30773C>G
XM_005251802.3:c.558G>C (FANCC)	XP_005251859.1:p.Met186Ile
XM_006717001.3:c.1074G>C (FANCC)	XP_006717064.1:p.Met358Ile
XM_006717002.4:c.1239G>C (FANCC)	XP_006717065.1:p.Met413Ile
XM_006717004.4:c.*134G>C (FANCC)	XP_006717067.1:n.*134G>C
XM_011518365.3:c.1239G>C (FANCC)	XP_011516667.1:p.Met413Ile
XM_011518366.3:c.1239G>C (FANCC)	XP_011516668.1:p.Met413Ile
XM_011518367.2:c.783G>C (FANCC)	XP_011516669.1:p.Met261Ile
XM_011519121.3:c.2319+30773C>G (AOPEP)	XP_011517423.1:n.2319+30773C>G
XM_017014452.2:c.783G>C (FANCC)	XP_016869941.1:p.Met261Ile
XM_017014453.1:c.783G>C (FANCC)	XP_016869942.1:p.Met261Ile
XM_017014454.1:c.618G>C (FANCC)	XP_016869943.1:p.Met206Ile
XM_024447451.1:c.1239G>C (FANCC)	XP_024303219.1:p.Met413Ile
NM_000136.3:c.1239G>C (FANCC) MANE Select	NP_000127.2:p.Met413Ile
NM_001243743.2:c.1239G>C (FANCC)	NP_001230672.1:p.Met413Ile
NM_001243744.2:c.1239G>C (FANCC)	NP_001230673.1:p.Met413Ile