Canonical Allele Identifier: CA2430030684

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985058T= , CM000685.2:g.53985058T=	GRCh38
NC_000023.10:g.54011491T= , CM000685.1:g.54011491T=	GRCh37
NC_000023.9:g.54028216T=	NCBI36
NG_021309.1:g.65079A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1996A=	ENSP00000340051.7:p.Asn666=
ENST00000396282.7:c.2299A=	ENSP00000379578.3:p.Asn767=
ENST00000686349.1:c.*754A=	ENSP00000510424.1:n.*754A=
ENST00000687764.1:c.*1741A=	ENSP00000509967.1:n.*1741A=
ENST00000691629.1:n.1663A=
ENST00000338154.11:c.2299A= MANE Select	ENSP00000338868.6:p.Asn767=
ENST00000322659.12:c.2248A=	ENSP00000319473.8:p.Asn750=
ENST00000338154.10:c.2299A=	ENSP00000338868.6:p.Asn767=
ENST00000338946.10:c.1996A=	ENSP00000340051.6:p.Asn666=
ENST00000357988.9:c.2407A=	ENSP00000350676.5:p.Asn803=
ENST00000396282.6:c.2010A=
ENST00000443302.5:c.1589A=
ENST00000615775.4:c.726A=	ENSP00000482159.1:p.Leu242=
NM_001184896.1:c.2407A=	NP_001171825.1:p.Asn803=
NM_001184897.1:c.1996A=	NP_001171826.1:p.Asn666=
NM_001184898.1:c.2248A=	NP_001171827.1:p.Asn750=
NM_015107.2:c.2299A=	NP_055922.1:p.Asn767=
XM_005261996.1:c.2407A=	XP_005262053.1:p.Asn803=
XM_005261997.2:c.2299A=	XP_005262054.1:p.Asn767=
XM_005261999.1:c.2299A=	XP_005262056.1:p.Asn767=
XM_005262000.1:c.2104A=	XP_005262057.1:p.Asn702=
XM_006724585.1:c.2407A=	XP_006724648.1:p.Asn803=
XM_011530778.1:c.2407A=	XP_011529080.1:p.Asn803=
XM_005261997.4:c.2299A=	XP_005262054.1:p.Asn767=
XM_017029361.2:c.2299A=	XP_016884850.1:p.Asn767=
XM_017029362.2:c.2299A=	XP_016884851.1:p.Asn767=
NM_001184898.2:c.2248A=	NP_001171827.1:p.Asn750=
NM_015107.3:c.2299A= MANE Select	NP_055922.1:p.Asn767=
NM_001184897.2:c.1996A=	NP_001171826.1:p.Asn666=