Canonical Allele Identifier: CA329927522
Gene: PHF8 HGNC NCBI

Linked Data

dbSNP Id: rs993263530
gnomAD v3: X-54042736-C-T
gnomAD v4: X-54042736-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54042736C>T , CM000685.2:g.54042736C>T GRCh38
NC_000023.10:g.54069169C>T , CM000685.1:g.54069169C>T GRCh37
NC_000023.9:g.54085894C>T NCBI36
NG_021309.1:g.7401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686349.1:c.-8G>A ENSP00000510424.1:n.-8G>A
ENST00000687764.1:c.-8G>A ENSP00000509967.1:n.-8G>A
ENST00000338154.11:c.-8G>A MANE Select ENSP00000338868.6:n.-8G>A
ENST00000322659.12:c.-8G>A ENSP00000319473.8:n.-8G>A
ENST00000338154.10:c.-8G>A ENSP00000338868.6:n.-8G>A
ENST00000338946.10:c.-8G>A ENSP00000340051.6:n.-8G>A
ENST00000357988.9:c.101G>A ENSP00000350676.5:p.Arg34Gln
ENST00000415025.5:c.-8G>A ENSP00000404117.1:n.-8G>A
ENST00000425862.5:c.-8G>A ENSP00000408113.1:n.-8G>A
ENST00000433120.5:c.-8G>A ENSP00000410100.1:n.-8G>A
ENST00000437224.5:c.-8G>A ENSP00000398995.1:n.-8G>A
ENST00000445025.1:c.-8G>A ENSP00000416546.1:n.-8G>A
ENST00000453905.5:c.101G>A ENSP00000405897.1:p.Arg34Gln
NM_001184896.1:c.101G>A NP_001171825.1:p.Arg34Gln
NM_001184897.1:c.-8G>A NP_001171826.1:n.-8G>A
NM_001184898.1:c.-8G>A NP_001171827.1:n.-8G>A
NM_015107.2:c.-8G>A NP_055922.1:n.-8G>A
XM_005261996.1:c.101G>A XP_005262053.1:p.Arg34Gln
XM_005261997.2:c.-8G>A XP_005262054.1:n.-8G>A
XM_005261999.1:c.-8G>A XP_005262056.1:n.-8G>A
XM_005262000.1:c.101G>A XP_005262057.1:p.Arg34Gln
XM_006724585.1:c.101G>A XP_006724648.1:p.Arg34Gln
XM_011530778.1:c.101G>A XP_011529080.1:p.Arg34Gln
XM_005261997.4:c.-8G>A XP_005262054.1:n.-8G>A
XM_017029361.2:c.-8G>A XP_016884850.1:n.-8G>A
XM_017029362.2:c.-8G>A XP_016884851.1:n.-8G>A
NM_001184898.2:c.-8G>A NP_001171827.1:n.-8G>A
NM_015107.3:c.-8G>A MANE Select NP_055922.1:n.-8G>A
NM_001184897.2:c.-8G>A NP_001171826.1:n.-8G>A