Canonical Allele Identifier: CA413253118

Gene: PHF8

Linked Data

• gnomAD v4: X-53985168-T-C
• MyVariant Identifiers: chrX:g.54011601T>C (hg19) ; chrX:g.53985168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985168T>C , CM000685.2:g.53985168T>C	GRCh38
NC_000023.10:g.54011601T>C , CM000685.1:g.54011601T>C	GRCh37
NC_000023.9:g.54028326T>C	NCBI36
NG_021309.1:g.64969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1886A>G	ENSP00000340051.7:p.Asn629Ser
ENST00000396282.7:c.2189A>G	ENSP00000379578.3:p.Asn730Ser
ENST00000686349.1:c.*644A>G	ENSP00000510424.1:n.*644A>G
ENST00000687764.1:c.*1631A>G	ENSP00000509967.1:n.*1631A>G
ENST00000691629.1:n.1553A>G
ENST00000338154.11:c.2189A>G MANE Select	ENSP00000338868.6:p.Asn730Ser
ENST00000322659.12:c.2138A>G	ENSP00000319473.8:p.Asn713Ser
ENST00000338154.10:c.2189A>G	ENSP00000338868.6:p.Asn730Ser
ENST00000338946.10:c.1886A>G	ENSP00000340051.6:p.Asn629Ser
ENST00000357988.9:c.2297A>G	ENSP00000350676.5:p.Asn766Ser
ENST00000396282.6:c.1900A>G
ENST00000443302.5:c.1479A>G
ENST00000615775.4:c.616A>G	ENSP00000482159.1:p.Thr206Ala
NM_001184896.1:c.2297A>G	NP_001171825.1:p.Asn766Ser
NM_001184897.1:c.1886A>G	NP_001171826.1:p.Asn629Ser
NM_001184898.1:c.2138A>G	NP_001171827.1:p.Asn713Ser
NM_015107.2:c.2189A>G	NP_055922.1:p.Asn730Ser
XM_005261996.1:c.2297A>G	XP_005262053.1:p.Asn766Ser
XM_005261997.2:c.2189A>G	XP_005262054.1:p.Asn730Ser
XM_005261999.1:c.2189A>G	XP_005262056.1:p.Asn730Ser
XM_005262000.1:c.1994A>G	XP_005262057.1:p.Asn665Ser
XM_006724585.1:c.2297A>G	XP_006724648.1:p.Asn766Ser
XM_011530778.1:c.2297A>G	XP_011529080.1:p.Asn766Ser
XM_005261997.4:c.2189A>G	XP_005262054.1:p.Asn730Ser
XM_017029361.2:c.2189A>G	XP_016884850.1:p.Asn730Ser
XM_017029362.2:c.2189A>G	XP_016884851.1:p.Asn730Ser
NM_001184898.2:c.2138A>G	NP_001171827.1:p.Asn713Ser
NM_015107.3:c.2189A>G MANE Select	NP_055922.1:p.Asn730Ser
NM_001184897.2:c.1886A>G	NP_001171826.1:p.Asn629Ser