Canonical Allele Identifier: CA413243139

Gene: PHF8

Linked Data

• MyVariant Identifiers: chrX:g.54040965C>A (hg19) ; chrX:g.54014532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54014532C>A , CM000685.2:g.54014532C>A	GRCh38
NC_000023.10:g.54040965C>A , CM000685.1:g.54040965C>A	GRCh37
NC_000023.9:g.54057690C>A	NCBI36
NG_021309.1:g.35605G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338946.11:c.628G>T	ENSP00000340051.7:p.Val210Phe
ENST00000396282.7:c.628G>T	ENSP00000379578.3:p.Val210Phe
ENST00000686349.1:c.628G>T	ENSP00000510424.1:p.Val210Phe
ENST00000687764.1:c.628G>T	ENSP00000509967.1:p.Val210Phe
ENST00000691629.1:n.148-3248G>T
ENST00000338154.11:c.628G>T MANE Select	ENSP00000338868.6:p.Val210Phe
ENST00000322659.12:c.628G>T	ENSP00000319473.8:p.Val210Phe
ENST00000338154.10:c.628G>T	ENSP00000338868.6:p.Val210Phe
ENST00000338946.10:c.628G>T	ENSP00000340051.6:p.Val210Phe
ENST00000357988.9:c.736G>T	ENSP00000350676.5:p.Val246Phe
ENST00000396282.6:c.339G>T
NM_001184896.1:c.736G>T	NP_001171825.1:p.Val246Phe
NM_001184897.1:c.628G>T	NP_001171826.1:p.Val210Phe
NM_001184898.1:c.628G>T	NP_001171827.1:p.Val210Phe
NM_015107.2:c.628G>T	NP_055922.1:p.Val210Phe
XM_005261996.1:c.736G>T	XP_005262053.1:p.Val246Phe
XM_005261997.2:c.628G>T	XP_005262054.1:p.Val210Phe
XM_005261999.1:c.628G>T	XP_005262056.1:p.Val210Phe
XM_005262000.1:c.736G>T	XP_005262057.1:p.Val246Phe
XM_006724585.1:c.736G>T	XP_006724648.1:p.Val246Phe
XM_011530778.1:c.736G>T	XP_011529080.1:p.Val246Phe
XM_005261997.4:c.628G>T	XP_005262054.1:p.Val210Phe
XM_017029361.2:c.628G>T	XP_016884850.1:p.Val210Phe
XM_017029362.2:c.628G>T	XP_016884851.1:p.Val210Phe
NM_001184898.2:c.628G>T	NP_001171827.1:p.Val210Phe
NM_015107.3:c.628G>T MANE Select	NP_055922.1:p.Val210Phe
NM_001184897.2:c.628G>T	NP_001171826.1:p.Val210Phe