Canonical Allele Identifier: CA413253432

Gene: PHF8

Linked Data

• ClinVar Variation Id: 2630649
• ClinVar RCV Id: RCV003402456
• MyVariant Identifiers: chrX:g.54011650C>A (hg19) ; chrX:g.53985217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985217C>A , CM000685.2:g.53985217C>A	GRCh38
NC_000023.10:g.54011650C>A , CM000685.1:g.54011650C>A	GRCh37
NC_000023.9:g.54028375C>A	NCBI36
NG_021309.1:g.64920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1837G>T	ENSP00000340051.7:p.Ala613Ser
ENST00000396282.7:c.2140G>T	ENSP00000379578.3:p.Ala714Ser
ENST00000686349.1:c.*595G>T	ENSP00000510424.1:n.*595G>T
ENST00000687764.1:c.*1582G>T	ENSP00000509967.1:n.*1582G>T
ENST00000691629.1:n.1504G>T
ENST00000338154.11:c.2140G>T MANE Select	ENSP00000338868.6:p.Ala714Ser
ENST00000322659.12:c.2089G>T	ENSP00000319473.8:p.Ala697Ser
ENST00000338154.10:c.2140G>T	ENSP00000338868.6:p.Ala714Ser
ENST00000338946.10:c.1837G>T	ENSP00000340051.6:p.Ala613Ser
ENST00000357988.9:c.2248G>T	ENSP00000350676.5:p.Ala750Ser
ENST00000396282.6:c.1851G>T
ENST00000443302.5:c.1430G>T
ENST00000615775.4:c.567G>T	ENSP00000482159.1:p.Gln189His
NM_001184896.1:c.2248G>T	NP_001171825.1:p.Ala750Ser
NM_001184897.1:c.1837G>T	NP_001171826.1:p.Ala613Ser
NM_001184898.1:c.2089G>T	NP_001171827.1:p.Ala697Ser
NM_015107.2:c.2140G>T	NP_055922.1:p.Ala714Ser
XM_005261996.1:c.2248G>T	XP_005262053.1:p.Ala750Ser
XM_005261997.2:c.2140G>T	XP_005262054.1:p.Ala714Ser
XM_005261999.1:c.2140G>T	XP_005262056.1:p.Ala714Ser
XM_005262000.1:c.1945G>T	XP_005262057.1:p.Ala649Ser
XM_006724585.1:c.2248G>T	XP_006724648.1:p.Ala750Ser
XM_011530778.1:c.2248G>T	XP_011529080.1:p.Ala750Ser
XM_005261997.4:c.2140G>T	XP_005262054.1:p.Ala714Ser
XM_017029361.2:c.2140G>T	XP_016884850.1:p.Ala714Ser
XM_017029362.2:c.2140G>T	XP_016884851.1:p.Ala714Ser
NM_001184898.2:c.2089G>T	NP_001171827.1:p.Ala697Ser
NM_015107.3:c.2140G>T MANE Select	NP_055922.1:p.Ala714Ser
NM_001184897.2:c.1837G>T	NP_001171826.1:p.Ala613Ser