Canonical Allele Identifier: CA2430030721

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985221G= , CM000685.2:g.53985221G=	GRCh38
NC_000023.10:g.54011654G= , CM000685.1:g.54011654G=	GRCh37
NC_000023.9:g.54028379G=	NCBI36
NG_021309.1:g.64916C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1833C=	ENSP00000340051.7:p.Ala611=
ENST00000396282.7:c.2136C=	ENSP00000379578.3:p.Ala712=
ENST00000686349.1:c.*591C=	ENSP00000510424.1:n.*591C=
ENST00000687764.1:c.*1578C=	ENSP00000509967.1:n.*1578C=
ENST00000691629.1:n.1500C=
ENST00000338154.11:c.2136C= MANE Select	ENSP00000338868.6:p.Ala712=
ENST00000322659.12:c.2085C=	ENSP00000319473.8:p.Ala695=
ENST00000338154.10:c.2136C=	ENSP00000338868.6:p.Ala712=
ENST00000338946.10:c.1833C=	ENSP00000340051.6:p.Ala611=
ENST00000357988.9:c.2244C=	ENSP00000350676.5:p.Ala748=
ENST00000396282.6:c.1847C=
ENST00000443302.5:c.1426C=
ENST00000615775.4:c.563C=	ENSP00000482159.1:p.Pro188=
NM_001184896.1:c.2244C=	NP_001171825.1:p.Ala748=
NM_001184897.1:c.1833C=	NP_001171826.1:p.Ala611=
NM_001184898.1:c.2085C=	NP_001171827.1:p.Ala695=
NM_015107.2:c.2136C=	NP_055922.1:p.Ala712=
XM_005261996.1:c.2244C=	XP_005262053.1:p.Ala748=
XM_005261997.2:c.2136C=	XP_005262054.1:p.Ala712=
XM_005261999.1:c.2136C=	XP_005262056.1:p.Ala712=
XM_005262000.1:c.1941C=	XP_005262057.1:p.Ala647=
XM_006724585.1:c.2244C=	XP_006724648.1:p.Ala748=
XM_011530778.1:c.2244C=	XP_011529080.1:p.Ala748=
XM_005261997.4:c.2136C=	XP_005262054.1:p.Ala712=
XM_017029361.2:c.2136C=	XP_016884850.1:p.Ala712=
XM_017029362.2:c.2136C=	XP_016884851.1:p.Ala712=
NM_001184898.2:c.2085C=	NP_001171827.1:p.Ala695=
NM_015107.3:c.2136C= MANE Select	NP_055922.1:p.Ala712=
NM_001184897.2:c.1833C=	NP_001171826.1:p.Ala611=