Canonical Allele Identifier: CA201396
Gene: PHF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 194867
ClinVar RCV Id: RCV000175335
dbSNP Id: rs797044665
MyVariant Identifiers: chrX:g.54011580G>C (hg19) chrX:g.53985147G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53985147G>C , CM000685.2:g.53985147G>C GRCh38
NC_000023.10:g.54011580G>C , CM000685.1:g.54011580G>C GRCh37
NC_000023.9:g.54028305G>C NCBI36
NG_021309.1:g.64990C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338946.11:c.1907C>G ENSP00000340051.7:p.Ser636Ter
ENST00000396282.7:c.2210C>G ENSP00000379578.3:p.Ser737Ter
ENST00000686349.1:c.*665C>G ENSP00000510424.1:n.*665C>G
ENST00000687764.1:c.*1652C>G ENSP00000509967.1:n.*1652C>G
ENST00000691629.1:n.1574C>G
ENST00000338154.11:c.2210C>G MANE Select ENSP00000338868.6:p.Ser737Ter
ENST00000322659.12:c.2159C>G ENSP00000319473.8:p.Ser720Ter
ENST00000338154.10:c.2210C>G ENSP00000338868.6:p.Ser737Ter
ENST00000338946.10:c.1907C>G ENSP00000340051.6:p.Ser636Ter
ENST00000357988.9:c.2318C>G ENSP00000350676.5:p.Ser773Ter
ENST00000396282.6:c.1921C>G
ENST00000443302.5:c.1500C>G
ENST00000615775.4:c.637C>G ENSP00000482159.1:p.His213Asp
NM_001184896.1:c.2318C>G NP_001171825.1:p.Ser773Ter
NM_001184897.1:c.1907C>G NP_001171826.1:p.Ser636Ter
NM_001184898.1:c.2159C>G NP_001171827.1:p.Ser720Ter
NM_015107.2:c.2210C>G NP_055922.1:p.Ser737Ter
XM_005261996.1:c.2318C>G XP_005262053.1:p.Ser773Ter
XM_005261997.2:c.2210C>G XP_005262054.1:p.Ser737Ter
XM_005261999.1:c.2210C>G XP_005262056.1:p.Ser737Ter
XM_005262000.1:c.2015C>G XP_005262057.1:p.Ser672Ter
XM_006724585.1:c.2318C>G XP_006724648.1:p.Ser773Ter
XM_011530778.1:c.2318C>G XP_011529080.1:p.Ser773Ter
XM_005261997.4:c.2210C>G XP_005262054.1:p.Ser737Ter
XM_017029361.2:c.2210C>G XP_016884850.1:p.Ser737Ter
XM_017029362.2:c.2210C>G XP_016884851.1:p.Ser737Ter
NM_001184898.2:c.2159C>G NP_001171827.1:p.Ser720Ter
NM_015107.3:c.2210C>G MANE Select NP_055922.1:p.Ser737Ter
NM_001184897.2:c.1907C>G NP_001171826.1:p.Ser636Ter
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