Canonical Allele Identifier: CA10423304

Gene: PHF8

Linked Data

• dbSNP Id: rs782330912
• ExAC: X:54011442 G / T
• gnomAD v2: X-54011442-G-T
• gnomAD v4: X-53985009-G-T
• MyVariant Identifiers: chrX:g.54011442G>T (hg19) ; chrX:g.53985009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985009G>T , CM000685.2:g.53985009G>T	GRCh38
NC_000023.10:g.54011442G>T , CM000685.1:g.54011442G>T	GRCh37
NC_000023.9:g.54028167G>T	NCBI36
NG_021309.1:g.65128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2045C>A	ENSP00000340051.7:p.Pro682Gln
ENST00000396282.7:c.2348C>A	ENSP00000379578.3:p.Pro783Gln
ENST00000686349.1:c.*803C>A	ENSP00000510424.1:n.*803C>A
ENST00000687764.1:c.*1790C>A	ENSP00000509967.1:n.*1790C>A
ENST00000691629.1:n.1712C>A
ENST00000338154.11:c.2348C>A MANE Select	ENSP00000338868.6:p.Pro783Gln
ENST00000322659.12:c.2297C>A	ENSP00000319473.8:p.Pro766Gln
ENST00000338154.10:c.2348C>A	ENSP00000338868.6:p.Pro783Gln
ENST00000338946.10:c.2045C>A	ENSP00000340051.6:p.Pro682Gln
ENST00000357988.9:c.2456C>A	ENSP00000350676.5:p.Pro819Gln
ENST00000396282.6:c.2059C>A
ENST00000443302.5:c.1638C>A
ENST00000615775.4:c.775C>A	ENSP00000482159.1:p.Gln259Lys
NM_001184896.1:c.2456C>A	NP_001171825.1:p.Pro819Gln
NM_001184897.1:c.2045C>A	NP_001171826.1:p.Pro682Gln
NM_001184898.1:c.2297C>A	NP_001171827.1:p.Pro766Gln
NM_015107.2:c.2348C>A	NP_055922.1:p.Pro783Gln
XM_005261996.1:c.2456C>A	XP_005262053.1:p.Pro819Gln
XM_005261997.2:c.2348C>A	XP_005262054.1:p.Pro783Gln
XM_005261999.1:c.2348C>A	XP_005262056.1:p.Pro783Gln
XM_005262000.1:c.2153C>A	XP_005262057.1:p.Pro718Gln
XM_006724585.1:c.2456C>A	XP_006724648.1:p.Pro819Gln
XM_011530778.1:c.2456C>A	XP_011529080.1:p.Pro819Gln
XM_005261997.4:c.2348C>A	XP_005262054.1:p.Pro783Gln
XM_017029361.2:c.2348C>A	XP_016884850.1:p.Pro783Gln
XM_017029362.2:c.2348C>A	XP_016884851.1:p.Pro783Gln
NM_001184898.2:c.2297C>A	NP_001171827.1:p.Pro766Gln
NM_015107.3:c.2348C>A MANE Select	NP_055922.1:p.Pro783Gln
NM_001184897.2:c.2045C>A	NP_001171826.1:p.Pro682Gln