Canonical Allele Identifier: CA1865462176

Gene: AOPEP FANCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107200G= , CM000671.2:g.95107200G=	GRCh38
NC_000009.11:g.97869482G= , CM000671.1:g.97869482G=	GRCh37
NC_000009.10:g.96909303G=	NCBI36
NG_011707.1:g.215510C= , LRG_497:g.215510C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26420G= (AOPEP)
ENST00000696260.1:n.2214C= (FANCC)
ENST00000289081.8:c.1399C= (FANCC) MANE Select	ENSP00000289081.3:p.Leu467=
ENST00000375305.6:c.1399C= (FANCC)	ENSP00000364454.1:p.Leu467=
ENST00000649334.1:c.1544C= (FANCC)	ENSP00000497735.1:n.1544C=
ENST00000289081.7:c.1399C= (FANCC)	ENSP00000289081.3:p.Leu467=
ENST00000375305.5:c.1399C= (FANCC)	ENSP00000364454.1:p.Leu467=
ENST00000464627.5:n.726C= (FANCC)
NM_000136.2:c.1399C= , LRG_497t1:c.1399C= (FANCC)	NP_000127.2:p.Leu467=
NM_001243743.1:c.1399C= (FANCC)	NP_001230672.1:p.Leu467=
XM_005251802.2:c.718C= (FANCC)	XP_005251859.1:p.Leu240=
XM_006717001.1:c.1234C= (FANCC)	XP_006717064.1:p.Leu412=
XM_011518365.1:c.1399C= (FANCC)	XP_011516667.1:p.Leu467=
XM_011518367.1:c.943C= (FANCC)	XP_011516669.1:p.Leu315=
XM_011519121.1:c.2319+26420G= (AOPEP)	XP_011517423.1:n.2319+26420G=
XM_005251802.3:c.718C= (FANCC)	XP_005251859.1:p.Leu240=
XM_006717001.3:c.1234C= (FANCC)	XP_006717064.1:p.Leu412=
XM_011518365.3:c.1399C= (FANCC)	XP_011516667.1:p.Leu467=
XM_011518367.2:c.943C= (FANCC)	XP_011516669.1:p.Leu315=
XM_011519121.3:c.2319+26420G= (AOPEP)	XP_011517423.1:n.2319+26420G=
XM_017014452.2:c.943C= (FANCC)	XP_016869941.1:p.Leu315=
XM_017014453.1:c.943C= (FANCC)	XP_016869942.1:p.Leu315=
XM_017014454.1:c.778C= (FANCC)	XP_016869943.1:p.Leu260=
XM_024447451.1:c.1399C= (FANCC)	XP_024303219.1:p.Leu467=
XR_001746847.1:n.618G=
NM_000136.3:c.1399C= (FANCC) MANE Select	NP_000127.2:p.Leu467=
NM_001243743.2:c.1399C= (FANCC)	NP_001230672.1:p.Leu467=