Canonical Allele Identifier: CA414713083

Gene: PHF6

Linked Data

• COSMIC: COSM158731 ; COSM3733139 ; COSM3733140
• MyVariant Identifiers: chrX:g.133547992G>A (hg19) ; chrX:g.134413962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413962G>A , CM000685.2:g.134413962G>A	GRCh38
NC_000023.10:g.133547992G>A , CM000685.1:g.133547992G>A	GRCh37
NC_000023.9:g.133375658G>A	NCBI36
NG_008886.1:g.45651G>A , LRG_629:g.45651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*644G>A	ENSP00000510193.1:n.*644G>A
ENST00000687496.1:c.623G>A	ENSP00000509551.1:p.Cys208Tyr
ENST00000688598.1:c.623G>A	ENSP00000510410.1:p.Cys208Tyr
ENST00000691812.1:c.725G>A	ENSP00000510211.1:p.Cys242Tyr
ENST00000693759.1:c.*337G>A	ENSP00000509518.1:n.*337G>A
ENST00000370803.8:c.725G>A MANE Select	ENSP00000359839.4:p.Cys242Tyr
ENST00000332070.7:c.725G>A	ENSP00000329097.3:p.Cys242Tyr
ENST00000370799.5:c.728G>A	ENSP00000359835.1:p.Cys243Tyr
ENST00000370800.4:c.728G>A	ENSP00000359836.4:p.Cys243Tyr
ENST00000370803.7:c.725G>A	ENSP00000359839.3:p.Cys242Tyr
ENST00000625464.2:c.728G>A	ENSP00000487420.1:p.Cys243Tyr
NM_001015877.1:c.725G>A , LRG_629t1:c.725G>A	NP_001015877.1:p.Cys242Tyr
NM_032335.3:c.728G>A , LRG_629t2:c.728G>A	NP_115711.2:p.Cys243Tyr
NM_032458.2:c.725G>A	NP_115834.1:p.Cys242Tyr
NM_001015877.2:c.725G>A MANE Select	NP_001015877.1:p.Cys242Tyr
NM_032458.3:c.725G>A	NP_115834.1:p.Cys242Tyr