Canonical Allele Identifier: CA10423327

Gene: PHF8

Linked Data

• dbSNP Id: rs782725932
• ExAC: X:54011630 C / T
• gnomAD v2: X-54011630-C-T
• gnomAD v4: X-53985197-C-T
• MyVariant Identifiers: chrX:g.54011630C>T (hg19) ; chrX:g.53985197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985197C>T , CM000685.2:g.53985197C>T	GRCh38
NC_000023.10:g.54011630C>T , CM000685.1:g.54011630C>T	GRCh37
NC_000023.9:g.54028355C>T	NCBI36
NG_021309.1:g.64940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1857G>A	ENSP00000340051.7:p.Glu619=
ENST00000396282.7:c.2160G>A	ENSP00000379578.3:p.Glu720=
ENST00000686349.1:c.*615G>A	ENSP00000510424.1:n.*615G>A
ENST00000687764.1:c.*1602G>A	ENSP00000509967.1:n.*1602G>A
ENST00000691629.1:n.1524G>A
ENST00000338154.11:c.2160G>A MANE Select	ENSP00000338868.6:p.Glu720=
ENST00000322659.12:c.2109G>A	ENSP00000319473.8:p.Glu703=
ENST00000338154.10:c.2160G>A	ENSP00000338868.6:p.Glu720=
ENST00000338946.10:c.1857G>A	ENSP00000340051.6:p.Glu619=
ENST00000357988.9:c.2268G>A	ENSP00000350676.5:p.Glu756=
ENST00000396282.6:c.1871G>A
ENST00000443302.5:c.1450G>A
ENST00000615775.4:c.587G>A	ENSP00000482159.1:p.Arg196Lys
NM_001184896.1:c.2268G>A	NP_001171825.1:p.Glu756=
NM_001184897.1:c.1857G>A	NP_001171826.1:p.Glu619=
NM_001184898.1:c.2109G>A	NP_001171827.1:p.Glu703=
NM_015107.2:c.2160G>A	NP_055922.1:p.Glu720=
XM_005261996.1:c.2268G>A	XP_005262053.1:p.Glu756=
XM_005261997.2:c.2160G>A	XP_005262054.1:p.Glu720=
XM_005261999.1:c.2160G>A	XP_005262056.1:p.Glu720=
XM_005262000.1:c.1965G>A	XP_005262057.1:p.Glu655=
XM_006724585.1:c.2268G>A	XP_006724648.1:p.Glu756=
XM_011530778.1:c.2268G>A	XP_011529080.1:p.Glu756=
XM_005261997.4:c.2160G>A	XP_005262054.1:p.Glu720=
XM_017029361.2:c.2160G>A	XP_016884850.1:p.Glu720=
XM_017029362.2:c.2160G>A	XP_016884851.1:p.Glu720=
NM_001184898.2:c.2109G>A	NP_001171827.1:p.Glu703=
NM_015107.3:c.2160G>A MANE Select	NP_055922.1:p.Glu720=
NM_001184897.2:c.1857G>A	NP_001171826.1:p.Glu619=