Canonical Allele Identifier: CA10423307

Gene: PHF8

Linked Data

• dbSNP Id: rs782762274
• ExAC: X:54011457 C / T
• gnomAD v2: X-54011457-C-T
• gnomAD v4: X-53985024-C-T
• MyVariant Identifiers: chrX:g.54011457C>T (hg19) ; chrX:g.53985024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985024C>T , CM000685.2:g.53985024C>T	GRCh38
NC_000023.10:g.54011457C>T , CM000685.1:g.54011457C>T	GRCh37
NC_000023.9:g.54028182C>T	NCBI36
NG_021309.1:g.65113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2030G>A	ENSP00000340051.7:p.Arg677Gln
ENST00000396282.7:c.2333G>A	ENSP00000379578.3:p.Arg778Gln
ENST00000686349.1:c.*788G>A	ENSP00000510424.1:n.*788G>A
ENST00000687764.1:c.*1775G>A	ENSP00000509967.1:n.*1775G>A
ENST00000691629.1:n.1697G>A
ENST00000338154.11:c.2333G>A MANE Select	ENSP00000338868.6:p.Arg778Gln
ENST00000322659.12:c.2282G>A	ENSP00000319473.8:p.Arg761Gln
ENST00000338154.10:c.2333G>A	ENSP00000338868.6:p.Arg778Gln
ENST00000338946.10:c.2030G>A	ENSP00000340051.6:p.Arg677Gln
ENST00000357988.9:c.2441G>A	ENSP00000350676.5:p.Arg814Gln
ENST00000396282.6:c.2044G>A
ENST00000443302.5:c.1623G>A
ENST00000615775.4:c.760G>A	ENSP00000482159.1:p.Gly254Ser
NM_001184896.1:c.2441G>A	NP_001171825.1:p.Arg814Gln
NM_001184897.1:c.2030G>A	NP_001171826.1:p.Arg677Gln
NM_001184898.1:c.2282G>A	NP_001171827.1:p.Arg761Gln
NM_015107.2:c.2333G>A	NP_055922.1:p.Arg778Gln
XM_005261996.1:c.2441G>A	XP_005262053.1:p.Arg814Gln
XM_005261997.2:c.2333G>A	XP_005262054.1:p.Arg778Gln
XM_005261999.1:c.2333G>A	XP_005262056.1:p.Arg778Gln
XM_005262000.1:c.2138G>A	XP_005262057.1:p.Arg713Gln
XM_006724585.1:c.2441G>A	XP_006724648.1:p.Arg814Gln
XM_011530778.1:c.2441G>A	XP_011529080.1:p.Arg814Gln
XM_005261997.4:c.2333G>A	XP_005262054.1:p.Arg778Gln
XM_017029361.2:c.2333G>A	XP_016884850.1:p.Arg778Gln
XM_017029362.2:c.2333G>A	XP_016884851.1:p.Arg778Gln
NM_001184898.2:c.2282G>A	NP_001171827.1:p.Arg761Gln
NM_015107.3:c.2333G>A MANE Select	NP_055922.1:p.Arg778Gln
NM_001184897.2:c.2030G>A	NP_001171826.1:p.Arg677Gln