Canonical Allele Identifier: CA121181
Gene: PHF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10799
ClinVar RCV Id: RCV000011546
dbSNP Id: rs121918523

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54016662T>A , CM000685.2:g.54016662T>A GRCh38
NC_000023.10:g.54043095T>A , CM000685.1:g.54043095T>A GRCh37
NC_000023.9:g.54059820T>A NCBI36
NG_021309.1:g.33475A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338946.11:c.529A>T ENSP00000340051.7:p.Lys177Ter
ENST00000396282.7:c.529A>T ENSP00000379578.3:p.Lys177Ter
ENST00000686349.1:c.529A>T ENSP00000510424.1:p.Lys177Ter
ENST00000687764.1:c.529A>T ENSP00000509967.1:p.Lys177Ter
ENST00000691629.1:n.148-5378A>T
ENST00000338154.11:c.529A>T MANE Select ENSP00000338868.6:p.Lys177Ter
ENST00000322659.12:c.529A>T ENSP00000319473.8:p.Lys177Ter
ENST00000338154.10:c.529A>T ENSP00000338868.6:p.Lys177Ter
ENST00000338946.10:c.529A>T ENSP00000340051.6:p.Lys177Ter
ENST00000357988.9:c.637A>T ENSP00000350676.5:p.Lys213Ter
ENST00000396282.6:c.240A>T
NM_001184896.1:c.637A>T NP_001171825.1:p.Lys213Ter
NM_001184897.1:c.529A>T NP_001171826.1:p.Lys177Ter
NM_001184898.1:c.529A>T NP_001171827.1:p.Lys177Ter
NM_015107.2:c.529A>T NP_055922.1:p.Lys177Ter
XM_005261996.1:c.637A>T XP_005262053.1:p.Lys213Ter
XM_005261997.2:c.529A>T XP_005262054.1:p.Lys177Ter
XM_005261999.1:c.529A>T XP_005262056.1:p.Lys177Ter
XM_005262000.1:c.637A>T XP_005262057.1:p.Lys213Ter
XM_006724585.1:c.637A>T XP_006724648.1:p.Lys213Ter
XM_011530778.1:c.637A>T XP_011529080.1:p.Lys213Ter
XM_005261997.4:c.529A>T XP_005262054.1:p.Lys177Ter
XM_017029361.2:c.529A>T XP_016884850.1:p.Lys177Ter
XM_017029362.2:c.529A>T XP_016884851.1:p.Lys177Ter
NM_001184898.2:c.529A>T NP_001171827.1:p.Lys177Ter
NM_015107.3:c.529A>T MANE Select NP_055922.1:p.Lys177Ter
NM_001184897.2:c.529A>T NP_001171826.1:p.Lys177Ter