Canonical Allele Identifier: CA413253073
Gene: PHF8 HGNC NCBI

Linked Data

dbSNP Id: rs1557099179
gnomAD v2: X-54011593-A-C
gnomAD v4: X-53985160-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53985160A>C , CM000685.2:g.53985160A>C GRCh38
NC_000023.10:g.54011593A>C , CM000685.1:g.54011593A>C GRCh37
NC_000023.9:g.54028318A>C NCBI36
NG_021309.1:g.64977T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338946.11:c.1894T>G ENSP00000340051.7:p.Ser632Ala
ENST00000396282.7:c.2197T>G ENSP00000379578.3:p.Ser733Ala
ENST00000686349.1:c.*652T>G ENSP00000510424.1:n.*652T>G
ENST00000687764.1:c.*1639T>G ENSP00000509967.1:n.*1639T>G
ENST00000691629.1:n.1561T>G
ENST00000338154.11:c.2197T>G MANE Select ENSP00000338868.6:p.Ser733Ala
ENST00000322659.12:c.2146T>G ENSP00000319473.8:p.Ser716Ala
ENST00000338154.10:c.2197T>G ENSP00000338868.6:p.Ser733Ala
ENST00000338946.10:c.1894T>G ENSP00000340051.6:p.Ser632Ala
ENST00000357988.9:c.2305T>G ENSP00000350676.5:p.Ser769Ala
ENST00000396282.6:c.1908T>G
ENST00000443302.5:c.1487T>G
ENST00000615775.4:c.624T>G ENSP00000482159.1:p.Ser208Arg
NM_001184896.1:c.2305T>G NP_001171825.1:p.Ser769Ala
NM_001184897.1:c.1894T>G NP_001171826.1:p.Ser632Ala
NM_001184898.1:c.2146T>G NP_001171827.1:p.Ser716Ala
NM_015107.2:c.2197T>G NP_055922.1:p.Ser733Ala
XM_005261996.1:c.2305T>G XP_005262053.1:p.Ser769Ala
XM_005261997.2:c.2197T>G XP_005262054.1:p.Ser733Ala
XM_005261999.1:c.2197T>G XP_005262056.1:p.Ser733Ala
XM_005262000.1:c.2002T>G XP_005262057.1:p.Ser668Ala
XM_006724585.1:c.2305T>G XP_006724648.1:p.Ser769Ala
XM_011530778.1:c.2305T>G XP_011529080.1:p.Ser769Ala
XM_005261997.4:c.2197T>G XP_005262054.1:p.Ser733Ala
XM_017029361.2:c.2197T>G XP_016884850.1:p.Ser733Ala
XM_017029362.2:c.2197T>G XP_016884851.1:p.Ser733Ala
NM_001184898.2:c.2146T>G NP_001171827.1:p.Ser716Ala
NM_015107.3:c.2197T>G MANE Select NP_055922.1:p.Ser733Ala
NM_001184897.2:c.1894T>G NP_001171826.1:p.Ser632Ala