Canonical Allele Identifier: CA516565271

Gene: PHF8

Linked Data

• dbSNP Id: rs2066029833
• gnomAD v4: X-54014452-G-A
• COSMIC: COSM6187841 ; COSM6187842 ; COSM6187843 ; COSM6187844
• MyVariant Identifiers: chrX:g.54040885G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54014452G>A , CM000685.2:g.54014452G>A	GRCh38
NC_000023.10:g.54040885G>A , CM000685.1:g.54040885G>A	GRCh37
NC_000023.9:g.54057610G>A	NCBI36
NG_021309.1:g.35685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.708C>T	ENSP00000340051.7:p.Leu236=
ENST00000396282.7:c.708C>T	ENSP00000379578.3:p.Leu236=
ENST00000686349.1:c.708C>T	ENSP00000510424.1:p.Leu236=
ENST00000687764.1:c.708C>T	ENSP00000509967.1:p.Leu236=
ENST00000691629.1:n.148-3168C>T
ENST00000338154.11:c.708C>T MANE Select	ENSP00000338868.6:p.Leu236=
ENST00000322659.12:c.708C>T	ENSP00000319473.8:p.Leu236=
ENST00000338154.10:c.708C>T	ENSP00000338868.6:p.Leu236=
ENST00000338946.10:c.708C>T	ENSP00000340051.6:p.Leu236=
ENST00000357988.9:c.816C>T	ENSP00000350676.5:p.Leu272=
ENST00000396282.6:c.419C>T
ENST00000490635.1:n.42C>T
NM_001184896.1:c.816C>T	NP_001171825.1:p.Leu272=
NM_001184897.1:c.708C>T	NP_001171826.1:p.Leu236=
NM_001184898.1:c.708C>T	NP_001171827.1:p.Leu236=
NM_015107.2:c.708C>T	NP_055922.1:p.Leu236=
XM_005261996.1:c.816C>T	XP_005262053.1:p.Leu272=
XM_005261997.2:c.708C>T	XP_005262054.1:p.Leu236=
XM_005261999.1:c.708C>T	XP_005262056.1:p.Leu236=
XM_005262000.1:c.816C>T	XP_005262057.1:p.Leu272=
XM_006724585.1:c.816C>T	XP_006724648.1:p.Leu272=
XM_011530778.1:c.816C>T	XP_011529080.1:p.Leu272=
XM_005261997.4:c.708C>T	XP_005262054.1:p.Leu236=
XM_017029361.2:c.708C>T	XP_016884850.1:p.Leu236=
XM_017029362.2:c.708C>T	XP_016884851.1:p.Leu236=
NM_001184898.2:c.708C>T	NP_001171827.1:p.Leu236=
NM_015107.3:c.708C>T MANE Select	NP_055922.1:p.Leu236=
NM_001184897.2:c.708C>T	NP_001171826.1:p.Leu236=