Canonical Allele Identifier: CA413253048
Gene: PHF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53985156G>T , CM000685.2:g.53985156G>T GRCh38
NC_000023.10:g.54011589G>T , CM000685.1:g.54011589G>T GRCh37
NC_000023.9:g.54028314G>T NCBI36
NG_021309.1:g.64981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338946.11:c.1898C>A ENSP00000340051.7:p.Ser633Ter
ENST00000396282.7:c.2201C>A ENSP00000379578.3:p.Ser734Ter
ENST00000686349.1:c.*656C>A ENSP00000510424.1:n.*656C>A
ENST00000687764.1:c.*1643C>A ENSP00000509967.1:n.*1643C>A
ENST00000691629.1:n.1565C>A
ENST00000338154.11:c.2201C>A MANE Select ENSP00000338868.6:p.Ser734Ter
ENST00000322659.12:c.2150C>A ENSP00000319473.8:p.Ser717Ter
ENST00000338154.10:c.2201C>A ENSP00000338868.6:p.Ser734Ter
ENST00000338946.10:c.1898C>A ENSP00000340051.6:p.Ser633Ter
ENST00000357988.9:c.2309C>A ENSP00000350676.5:p.Ser770Ter
ENST00000396282.6:c.1912C>A
ENST00000443302.5:c.1491C>A
ENST00000615775.4:c.628C>A ENSP00000482159.1:p.His210Asn
NM_001184896.1:c.2309C>A NP_001171825.1:p.Ser770Ter
NM_001184897.1:c.1898C>A NP_001171826.1:p.Ser633Ter
NM_001184898.1:c.2150C>A NP_001171827.1:p.Ser717Ter
NM_015107.2:c.2201C>A NP_055922.1:p.Ser734Ter
XM_005261996.1:c.2309C>A XP_005262053.1:p.Ser770Ter
XM_005261997.2:c.2201C>A XP_005262054.1:p.Ser734Ter
XM_005261999.1:c.2201C>A XP_005262056.1:p.Ser734Ter
XM_005262000.1:c.2006C>A XP_005262057.1:p.Ser669Ter
XM_006724585.1:c.2309C>A XP_006724648.1:p.Ser770Ter
XM_011530778.1:c.2309C>A XP_011529080.1:p.Ser770Ter
XM_005261997.4:c.2201C>A XP_005262054.1:p.Ser734Ter
XM_017029361.2:c.2201C>A XP_016884850.1:p.Ser734Ter
XM_017029362.2:c.2201C>A XP_016884851.1:p.Ser734Ter
NM_001184898.2:c.2150C>A NP_001171827.1:p.Ser717Ter
NM_015107.3:c.2201C>A MANE Select NP_055922.1:p.Ser734Ter
NM_001184897.2:c.1898C>A NP_001171826.1:p.Ser633Ter