Canonical Allele Identifier: CA413252316

Gene: PHF8

Linked Data

• gnomAD v4: X-53985051-G-C
• MyVariant Identifiers: chrX:g.54011484G>C (hg19) ; chrX:g.53985051G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985051G>C , CM000685.2:g.53985051G>C	GRCh38
NC_000023.10:g.54011484G>C , CM000685.1:g.54011484G>C	GRCh37
NC_000023.9:g.54028209G>C	NCBI36
NG_021309.1:g.65086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2003C>G	ENSP00000340051.7:p.Pro668Arg
ENST00000396282.7:c.2306C>G	ENSP00000379578.3:p.Pro769Arg
ENST00000686349.1:c.*761C>G	ENSP00000510424.1:n.*761C>G
ENST00000687764.1:c.*1748C>G	ENSP00000509967.1:n.*1748C>G
ENST00000691629.1:n.1670C>G
ENST00000338154.11:c.2306C>G MANE Select	ENSP00000338868.6:p.Pro769Arg
ENST00000322659.12:c.2255C>G	ENSP00000319473.8:p.Pro752Arg
ENST00000338154.10:c.2306C>G	ENSP00000338868.6:p.Pro769Arg
ENST00000338946.10:c.2003C>G	ENSP00000340051.6:p.Pro668Arg
ENST00000357988.9:c.2414C>G	ENSP00000350676.5:p.Pro805Arg
ENST00000396282.6:c.2017C>G
ENST00000443302.5:c.1596C>G
ENST00000615775.4:c.733C>G	ENSP00000482159.1:p.Leu245Val
NM_001184896.1:c.2414C>G	NP_001171825.1:p.Pro805Arg
NM_001184897.1:c.2003C>G	NP_001171826.1:p.Pro668Arg
NM_001184898.1:c.2255C>G	NP_001171827.1:p.Pro752Arg
NM_015107.2:c.2306C>G	NP_055922.1:p.Pro769Arg
XM_005261996.1:c.2414C>G	XP_005262053.1:p.Pro805Arg
XM_005261997.2:c.2306C>G	XP_005262054.1:p.Pro769Arg
XM_005261999.1:c.2306C>G	XP_005262056.1:p.Pro769Arg
XM_005262000.1:c.2111C>G	XP_005262057.1:p.Pro704Arg
XM_006724585.1:c.2414C>G	XP_006724648.1:p.Pro805Arg
XM_011530778.1:c.2414C>G	XP_011529080.1:p.Pro805Arg
XM_005261997.4:c.2306C>G	XP_005262054.1:p.Pro769Arg
XM_017029361.2:c.2306C>G	XP_016884850.1:p.Pro769Arg
XM_017029362.2:c.2306C>G	XP_016884851.1:p.Pro769Arg
NM_001184898.2:c.2255C>G	NP_001171827.1:p.Pro752Arg
NM_015107.3:c.2306C>G MANE Select	NP_055922.1:p.Pro769Arg
NM_001184897.2:c.2003C>G	NP_001171826.1:p.Pro668Arg