Canonical Allele Identifier: CA1865462111

Gene: AOPEP FANCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107068G= , CM000671.2:g.95107068G=	GRCh38
NC_000009.11:g.97869350G= , CM000671.1:g.97869350G=	GRCh37
NC_000009.10:g.96909171G=	NCBI36
NG_011707.1:g.215642C= , LRG_497:g.215642C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26288G= (AOPEP)
ENST00000696260.1:n.2346C= (FANCC)
ENST00000289081.8:c.1531C= (FANCC) MANE Select	ENSP00000289081.3:p.Leu511=
ENST00000375305.6:c.1531C= (FANCC)	ENSP00000364454.1:p.Leu511=
ENST00000649334.1:c.1676C= (FANCC)	ENSP00000497735.1:n.1676C=
ENST00000289081.7:c.1531C= (FANCC)	ENSP00000289081.3:p.Leu511=
ENST00000375305.5:c.1531C= (FANCC)	ENSP00000364454.1:p.Leu511=
NM_000136.2:c.1531C= , LRG_497t1:c.1531C= (FANCC)	NP_000127.2:p.Leu511=
NM_001243743.1:c.1531C= (FANCC)	NP_001230672.1:p.Leu511=
XM_005251802.2:c.850C= (FANCC)	XP_005251859.1:p.Leu284=
XM_006717001.1:c.1366C= (FANCC)	XP_006717064.1:p.Leu456=
XM_011518365.1:c.1531C= (FANCC)	XP_011516667.1:p.Leu511=
XM_011518367.1:c.1075C= (FANCC)	XP_011516669.1:p.Leu359=
XM_011519121.1:c.2319+26288G= (AOPEP)	XP_011517423.1:n.2319+26288G=
XM_005251802.3:c.850C= (FANCC)	XP_005251859.1:p.Leu284=
XM_006717001.3:c.1366C= (FANCC)	XP_006717064.1:p.Leu456=
XM_011518365.3:c.1531C= (FANCC)	XP_011516667.1:p.Leu511=
XM_011518367.2:c.1075C= (FANCC)	XP_011516669.1:p.Leu359=
XM_011519121.3:c.2319+26288G= (AOPEP)	XP_011517423.1:n.2319+26288G=
XM_017014452.2:c.1075C= (FANCC)	XP_016869941.1:p.Leu359=
XM_017014453.1:c.1075C= (FANCC)	XP_016869942.1:p.Leu359=
XM_017014454.1:c.910C= (FANCC)	XP_016869943.1:p.Leu304=
XM_024447451.1:c.1531C= (FANCC)	XP_024303219.1:p.Leu511=
XR_001746847.1:n.486G=
NM_000136.3:c.1531C= (FANCC) MANE Select	NP_000127.2:p.Leu511=
NM_001243743.2:c.1531C= (FANCC)	NP_001230672.1:p.Leu511=