Canonical Allele Identifier: CA16621455

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53993884A>G , CM000685.2:g.53993884A>G	GRCh38
NC_000023.10:g.54020317A>G , CM000685.1:g.54020317A>G	GRCh37
NC_000023.9:g.54037042A>G	NCBI36
NG_021309.1:g.56253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1324-1045T>C	ENSP00000340051.7:n.1324-1045T>C
ENST00000396282.7:c.1343T>C	ENSP00000379578.3:p.Val448Ala
ENST00000686349.1:c.1343T>C	ENSP00000510424.1:p.Val448Ala
ENST00000687764.1:c.*197T>C	ENSP00000509967.1:n.*197T>C
ENST00000691629.1:n.707T>C
ENST00000338154.11:c.1343T>C MANE Select	ENSP00000338868.6:p.Val448Ala
ENST00000322659.12:c.1343T>C	ENSP00000319473.8:p.Val448Ala
ENST00000338154.10:c.1343T>C	ENSP00000338868.6:p.Val448Ala
ENST00000338946.10:c.1324-1045T>C	ENSP00000340051.6:n.1324-1045T>C
ENST00000357988.9:c.1451T>C	ENSP00000350676.5:p.Val484Ala
ENST00000396282.6:c.1054T>C
ENST00000413386.5:c.535-1045T>C	ENSP00000388796.1:n.535-1045T>C
ENST00000443302.5:c.633T>C
ENST00000448003.1:c.366-1045T>C
ENST00000615775.4:c.-230T>C	ENSP00000482159.1:n.-230T>C
NM_001184896.1:c.1451T>C	NP_001171825.1:p.Val484Ala
NM_001184897.1:c.1324-1045T>C	NP_001171826.1:n.1324-1045T>C
NM_001184898.1:c.1343T>C	NP_001171827.1:p.Val448Ala
NM_015107.2:c.1343T>C	NP_055922.1:p.Val448Ala
XM_005261996.1:c.1451T>C	XP_005262053.1:p.Val484Ala
XM_005261997.2:c.1343T>C	XP_005262054.1:p.Val448Ala
XM_005261999.1:c.1343T>C	XP_005262056.1:p.Val448Ala
XM_005262000.1:c.1432-1045T>C	XP_005262057.1:n.1432-1045T>C
XM_006724585.1:c.1451T>C	XP_006724648.1:p.Val484Ala
XM_011530778.1:c.1451T>C	XP_011529080.1:p.Val484Ala
XM_005261997.4:c.1343T>C	XP_005262054.1:p.Val448Ala
XM_017029361.2:c.1343T>C	XP_016884850.1:p.Val448Ala
XM_017029362.2:c.1343T>C	XP_016884851.1:p.Val448Ala
NM_001184898.2:c.1343T>C	NP_001171827.1:p.Val448Ala
NM_015107.3:c.1343T>C MANE Select	NP_055922.1:p.Val448Ala
NM_001184897.2:c.1324-1045T>C	NP_001171826.1:n.1324-1045T>C