Canonical Allele Identifier: CA329924346

Gene: PHF8

Linked Data

• dbSNP Id: rs990346269
• gnomAD v4: X-53984886-C-T
• MyVariant Identifiers: chrX:g.54011319C>T (hg19) ; chrX:g.53984886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53984886C>T , CM000685.2:g.53984886C>T	GRCh38
NC_000023.10:g.54011319C>T , CM000685.1:g.54011319C>T	GRCh37
NC_000023.9:g.54028044C>T	NCBI36
NG_021309.1:g.65251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2140+28G>A	ENSP00000340051.7:n.2140+28G>A
ENST00000396282.7:c.2443+28G>A	ENSP00000379578.3:n.2443+28G>A
ENST00000686349.1:c.*898+28G>A	ENSP00000510424.1:n.*898+28G>A
ENST00000687764.1:c.*1885+28G>A	ENSP00000509967.1:n.*1885+28G>A
ENST00000691629.1:n.1807+28G>A
ENST00000338154.11:c.2443+28G>A MANE Select	ENSP00000338868.6:n.2443+28G>A
ENST00000322659.12:c.2392+28G>A	ENSP00000319473.8:n.2392+28G>A
ENST00000338154.10:c.2443+28G>A	ENSP00000338868.6:n.2443+28G>A
ENST00000338946.10:c.2140+28G>A	ENSP00000340051.6:n.2140+28G>A
ENST00000357988.9:c.2551+28G>A	ENSP00000350676.5:n.2551+28G>A
ENST00000396282.6:c.2154+28G>A
ENST00000443302.5:c.1733+28G>A
ENST00000615775.4:c.870+28G>A	ENSP00000482159.1:n.870+28G>A
NM_001184896.1:c.2551+28G>A	NP_001171825.1:n.2551+28G>A
NM_001184897.1:c.2140+28G>A	NP_001171826.1:n.2140+28G>A
NM_001184898.1:c.2392+28G>A	NP_001171827.1:n.2392+28G>A
NM_015107.2:c.2443+28G>A	NP_055922.1:n.2443+28G>A
XM_005261996.1:c.2551+28G>A	XP_005262053.1:n.2551+28G>A
XM_005261997.2:c.2443+28G>A	XP_005262054.1:n.2443+28G>A
XM_005261999.1:c.2443+28G>A	XP_005262056.1:n.2443+28G>A
XM_005262000.1:c.2248+28G>A	XP_005262057.1:n.2248+28G>A
XM_006724585.1:c.2551+28G>A	XP_006724648.1:n.2551+28G>A
XM_011530778.1:c.2551+28G>A	XP_011529080.1:n.2551+28G>A
XM_005261997.4:c.2443+28G>A	XP_005262054.1:n.2443+28G>A
XM_017029361.2:c.2443+28G>A	XP_016884850.1:n.2443+28G>A
XM_017029362.2:c.2443+28G>A	XP_016884851.1:n.2443+28G>A
NM_001184898.2:c.2392+28G>A	NP_001171827.1:n.2392+28G>A
NM_015107.3:c.2443+28G>A MANE Select	NP_055922.1:n.2443+28G>A
NM_001184897.2:c.2140+28G>A	NP_001171826.1:n.2140+28G>A