Canonical Allele Identifier: CA414712969

Gene: PHF6

Linked Data

• COSMIC: COSM4385504 ; COSM4385505 ; COSM4385506
• MyVariant Identifiers: chrX:g.133547941G>A (hg19) ; chrX:g.134413911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413911G>A , CM000685.2:g.134413911G>A	GRCh38
NC_000023.10:g.133547941G>A , CM000685.1:g.133547941G>A	GRCh37
NC_000023.9:g.133375607G>A	NCBI36
NG_008886.1:g.45600G>A , LRG_629:g.45600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*593G>A	ENSP00000510193.1:n.*593G>A
ENST00000687496.1:c.572G>A	ENSP00000509551.1:p.Arg191Gln
ENST00000688598.1:c.572G>A	ENSP00000510410.1:p.Arg191Gln
ENST00000691812.1:c.674G>A	ENSP00000510211.1:p.Arg225Gln
ENST00000693759.1:c.*286G>A	ENSP00000509518.1:n.*286G>A
ENST00000370803.8:c.674G>A MANE Select	ENSP00000359839.4:p.Arg225Gln
ENST00000332070.7:c.674G>A	ENSP00000329097.3:p.Arg225Gln
ENST00000370799.5:c.677G>A	ENSP00000359835.1:p.Arg226Gln
ENST00000370800.4:c.677G>A	ENSP00000359836.4:p.Arg226Gln
ENST00000370803.7:c.674G>A	ENSP00000359839.3:p.Arg225Gln
ENST00000625464.2:c.677G>A	ENSP00000487420.1:p.Arg226Gln
NM_001015877.1:c.674G>A , LRG_629t1:c.674G>A	NP_001015877.1:p.Arg225Gln
NM_032335.3:c.677G>A , LRG_629t2:c.677G>A	NP_115711.2:p.Arg226Gln
NM_032458.2:c.674G>A	NP_115834.1:p.Arg225Gln
NM_001015877.2:c.674G>A MANE Select	NP_001015877.1:p.Arg225Gln
NM_032458.3:c.674G>A	NP_115834.1:p.Arg225Gln