Canonical Allele Identifier: CA413242897

Gene: PHF8

Linked Data

• dbSNP Id: rs1557107443
• gnomAD v2: X-54040863-T-C
• MyVariant Identifiers: chrX:g.54040863T>C (hg19) ; chrX:g.54014430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54014430T>C , CM000685.2:g.54014430T>C	GRCh38
NC_000023.10:g.54040863T>C , CM000685.1:g.54040863T>C	GRCh37
NC_000023.9:g.54057588T>C	NCBI36
NG_021309.1:g.35707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.730A>G	ENSP00000340051.7:p.Thr244Ala
ENST00000396282.7:c.730A>G	ENSP00000379578.3:p.Thr244Ala
ENST00000686349.1:c.730A>G	ENSP00000510424.1:p.Thr244Ala
ENST00000687764.1:c.730A>G	ENSP00000509967.1:p.Thr244Ala
ENST00000691629.1:n.148-3146A>G
ENST00000338154.11:c.730A>G MANE Select	ENSP00000338868.6:p.Thr244Ala
ENST00000322659.12:c.730A>G	ENSP00000319473.8:p.Thr244Ala
ENST00000338154.10:c.730A>G	ENSP00000338868.6:p.Thr244Ala
ENST00000338946.10:c.730A>G	ENSP00000340051.6:p.Thr244Ala
ENST00000357988.9:c.838A>G	ENSP00000350676.5:p.Thr280Ala
ENST00000396282.6:c.441A>G
ENST00000443302.5:c.20A>G
ENST00000490635.1:n.64A>G
ENST00000615775.4:c.-843A>G	ENSP00000482159.1:n.-843A>G
NM_001184896.1:c.838A>G	NP_001171825.1:p.Thr280Ala
NM_001184897.1:c.730A>G	NP_001171826.1:p.Thr244Ala
NM_001184898.1:c.730A>G	NP_001171827.1:p.Thr244Ala
NM_015107.2:c.730A>G	NP_055922.1:p.Thr244Ala
XM_005261996.1:c.838A>G	XP_005262053.1:p.Thr280Ala
XM_005261997.2:c.730A>G	XP_005262054.1:p.Thr244Ala
XM_005261999.1:c.730A>G	XP_005262056.1:p.Thr244Ala
XM_005262000.1:c.838A>G	XP_005262057.1:p.Thr280Ala
XM_006724585.1:c.838A>G	XP_006724648.1:p.Thr280Ala
XM_011530778.1:c.838A>G	XP_011529080.1:p.Thr280Ala
XM_005261997.4:c.730A>G	XP_005262054.1:p.Thr244Ala
XM_017029361.2:c.730A>G	XP_016884850.1:p.Thr244Ala
XM_017029362.2:c.730A>G	XP_016884851.1:p.Thr244Ala
NM_001184898.2:c.730A>G	NP_001171827.1:p.Thr244Ala
NM_015107.3:c.730A>G MANE Select	NP_055922.1:p.Thr244Ala
NM_001184897.2:c.730A>G	NP_001171826.1:p.Thr244Ala