Canonical Allele Identifier: CA374104245

Gene: AOPEP FANCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101723A>C , CM000671.2:g.95101723A>C	GRCh38
NC_000009.11:g.97864005A>C , CM000671.1:g.97864005A>C	GRCh37
NC_000009.10:g.96903826A>C	NCBI36
NG_011707.1:g.220987T>G , LRG_497:g.220987T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000136.3:c.1661T>G (FANCC) MANE Select	NP_000127.2:p.Leu554Arg
ENST00000289081.8:c.1661T>G (FANCC) MANE Select	ENSP00000289081.3:p.Leu554Arg
NM_000136.2:c.1661T>G , LRG_497t1:c.1661T>G (FANCC)	NP_000127.2:p.Leu554Arg
NM_001243743.1:c.1661T>G (FANCC)	NP_001230672.1:p.Leu554Arg
NM_001243743.2:c.1661T>G (FANCC)	NP_001230672.1:p.Leu554Arg
ENST00000289081.7:c.1661T>G (FANCC)	ENSP00000289081.3:p.Leu554Arg
ENST00000375305.5:c.1661T>G (FANCC)	ENSP00000364454.1:p.Leu554Arg
ENST00000375305.6:c.1661T>G (FANCC)	ENSP00000364454.1:p.Leu554Arg
ENST00000649334.1:c.1806T>G (FANCC)	ENSP00000497735.1:n.1806T>G
ENST00000696260.1:n.2476T>G (FANCC)
ENST00000710812.1:n.410+20943A>C (AOPEP)
XM_005251802.2:c.980T>G (FANCC)	XP_005251859.1:p.Leu327Arg
XM_005251802.3:c.980T>G (FANCC)	XP_005251859.1:p.Leu327Arg
XM_006717001.1:c.1496T>G (FANCC)	XP_006717064.1:p.Leu499Arg
XM_006717001.3:c.1496T>G (FANCC)	XP_006717064.1:p.Leu499Arg
XM_011518365.1:c.1661T>G (FANCC)	XP_011516667.1:p.Leu554Arg
XM_011518365.3:c.1661T>G (FANCC)	XP_011516667.1:p.Leu554Arg
XM_011518367.1:c.1205T>G (FANCC)	XP_011516669.1:p.Leu402Arg
XM_011518367.2:c.1205T>G (FANCC)	XP_011516669.1:p.Leu402Arg
XM_011519121.1:c.2319+20943A>C (AOPEP)	XP_011517423.1:n.2319+20943A>C
XM_011519121.3:c.2319+20943A>C (AOPEP)	XP_011517423.1:n.2319+20943A>C
XM_017014452.2:c.1205T>G (FANCC)	XP_016869941.1:p.Leu402Arg
XM_017014453.1:c.1205T>G (FANCC)	XP_016869942.1:p.Leu402Arg
XM_017014454.1:c.1040T>G (FANCC)	XP_016869943.1:p.Leu347Arg
XM_024447451.1:c.1661T>G (FANCC)	XP_024303219.1:p.Leu554Arg