Canonical Allele Identifier: CA329927522

Gene: PHF8

Linked Data

• dbSNP Id: rs993263530
• gnomAD v3: X-54042736-C-T
• gnomAD v4: X-54042736-C-T
• COSMIC: COSM4714039
• MyVariant Identifiers: chrX:g.54069169C>T (hg19) ; chrX:g.54042736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54042736C>T , CM000685.2:g.54042736C>T	GRCh38
NC_000023.10:g.54069169C>T , CM000685.1:g.54069169C>T	GRCh37
NC_000023.9:g.54085894C>T	NCBI36
NG_021309.1:g.7401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-8G>A	ENSP00000510424.1:n.-8G>A
ENST00000687764.1:c.-8G>A	ENSP00000509967.1:n.-8G>A
ENST00000338154.11:c.-8G>A MANE Select	ENSP00000338868.6:n.-8G>A
ENST00000322659.12:c.-8G>A	ENSP00000319473.8:n.-8G>A
ENST00000338154.10:c.-8G>A	ENSP00000338868.6:n.-8G>A
ENST00000338946.10:c.-8G>A	ENSP00000340051.6:n.-8G>A
ENST00000357988.9:c.101G>A	ENSP00000350676.5:p.Arg34Gln
ENST00000415025.5:c.-8G>A	ENSP00000404117.1:n.-8G>A
ENST00000425862.5:c.-8G>A	ENSP00000408113.1:n.-8G>A
ENST00000433120.5:c.-8G>A	ENSP00000410100.1:n.-8G>A
ENST00000437224.5:c.-8G>A	ENSP00000398995.1:n.-8G>A
ENST00000445025.1:c.-8G>A	ENSP00000416546.1:n.-8G>A
ENST00000453905.5:c.101G>A	ENSP00000405897.1:p.Arg34Gln
NM_001184896.1:c.101G>A	NP_001171825.1:p.Arg34Gln
NM_001184897.1:c.-8G>A	NP_001171826.1:n.-8G>A
NM_001184898.1:c.-8G>A	NP_001171827.1:n.-8G>A
NM_015107.2:c.-8G>A	NP_055922.1:n.-8G>A
XM_005261996.1:c.101G>A	XP_005262053.1:p.Arg34Gln
XM_005261997.2:c.-8G>A	XP_005262054.1:n.-8G>A
XM_005261999.1:c.-8G>A	XP_005262056.1:n.-8G>A
XM_005262000.1:c.101G>A	XP_005262057.1:p.Arg34Gln
XM_006724585.1:c.101G>A	XP_006724648.1:p.Arg34Gln
XM_011530778.1:c.101G>A	XP_011529080.1:p.Arg34Gln
XM_005261997.4:c.-8G>A	XP_005262054.1:n.-8G>A
XM_017029361.2:c.-8G>A	XP_016884850.1:n.-8G>A
XM_017029362.2:c.-8G>A	XP_016884851.1:n.-8G>A
NM_001184898.2:c.-8G>A	NP_001171827.1:n.-8G>A
NM_015107.3:c.-8G>A MANE Select	NP_055922.1:n.-8G>A
NM_001184897.2:c.-8G>A	NP_001171826.1:n.-8G>A