Canonical Allele Identifier: CA413251784

Gene: PHF8

Linked Data

• MyVariant Identifiers: chrX:g.54011407C>G (hg19) ; chrX:g.53984974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53984974C>G , CM000685.2:g.53984974C>G	GRCh38
NC_000023.10:g.54011407C>G , CM000685.1:g.54011407C>G	GRCh37
NC_000023.9:g.54028132C>G	NCBI36
NG_021309.1:g.65163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2080G>C	ENSP00000340051.7:p.Glu694Gln
ENST00000396282.7:c.2383G>C	ENSP00000379578.3:p.Glu795Gln
ENST00000686349.1:c.*838G>C	ENSP00000510424.1:n.*838G>C
ENST00000687764.1:c.*1825G>C	ENSP00000509967.1:n.*1825G>C
ENST00000691629.1:n.1747G>C
ENST00000338154.11:c.2383G>C MANE Select	ENSP00000338868.6:p.Glu795Gln
ENST00000322659.12:c.2332G>C	ENSP00000319473.8:p.Glu778Gln
ENST00000338154.10:c.2383G>C	ENSP00000338868.6:p.Glu795Gln
ENST00000338946.10:c.2080G>C	ENSP00000340051.6:p.Glu694Gln
ENST00000357988.9:c.2491G>C	ENSP00000350676.5:p.Glu831Gln
ENST00000396282.6:c.2094G>C
ENST00000443302.5:c.1673G>C
ENST00000615775.4:c.810G>C	ENSP00000482159.1:p.Arg270Ser
NM_001184896.1:c.2491G>C	NP_001171825.1:p.Glu831Gln
NM_001184897.1:c.2080G>C	NP_001171826.1:p.Glu694Gln
NM_001184898.1:c.2332G>C	NP_001171827.1:p.Glu778Gln
NM_015107.2:c.2383G>C	NP_055922.1:p.Glu795Gln
XM_005261996.1:c.2491G>C	XP_005262053.1:p.Glu831Gln
XM_005261997.2:c.2383G>C	XP_005262054.1:p.Glu795Gln
XM_005261999.1:c.2383G>C	XP_005262056.1:p.Glu795Gln
XM_005262000.1:c.2188G>C	XP_005262057.1:p.Glu730Gln
XM_006724585.1:c.2491G>C	XP_006724648.1:p.Glu831Gln
XM_011530778.1:c.2491G>C	XP_011529080.1:p.Glu831Gln
XM_005261997.4:c.2383G>C	XP_005262054.1:p.Glu795Gln
XM_017029361.2:c.2383G>C	XP_016884850.1:p.Glu795Gln
XM_017029362.2:c.2383G>C	XP_016884851.1:p.Glu795Gln
NM_001184898.2:c.2332G>C	NP_001171827.1:p.Glu778Gln
NM_015107.3:c.2383G>C MANE Select	NP_055922.1:p.Glu795Gln
NM_001184897.2:c.2080G>C	NP_001171826.1:p.Glu694Gln