Canonical Allele Identifier: CA414713241

Gene: PHF6

Linked Data

• COSMIC: COSM1315228 ; COSM1315229
• MyVariant Identifiers: chrX:g.133549106G>C (hg19) ; chrX:g.134415076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415076G>C , CM000685.2:g.134415076G>C	GRCh38
NC_000023.10:g.133549106G>C , CM000685.1:g.133549106G>C	GRCh37
NC_000023.9:g.133376772G>C	NCBI36
NG_008886.1:g.46765G>C , LRG_629:g.46765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*709G>C	ENSP00000510193.1:n.*709G>C
ENST00000687496.1:c.688G>C	ENSP00000509551.1:p.Asp230His
ENST00000688598.1:c.688G>C	ENSP00000510410.1:p.Asp230His
ENST00000691812.1:c.790G>C	ENSP00000510211.1:p.Asp264His
ENST00000693759.1:c.*402G>C	ENSP00000509518.1:n.*402G>C
ENST00000370803.8:c.790G>C MANE Select	ENSP00000359839.4:p.Asp264His
ENST00000332070.7:c.790G>C	ENSP00000329097.3:p.Asp264His
ENST00000370799.5:c.793G>C	ENSP00000359835.1:p.Asp265His
ENST00000370800.4:c.793G>C	ENSP00000359836.4:p.Asp265His
ENST00000370803.7:c.790G>C	ENSP00000359839.3:p.Asp264His
ENST00000625464.2:c.793G>C	ENSP00000487420.1:p.Asp265His
NM_001015877.1:c.790G>C , LRG_629t1:c.790G>C	NP_001015877.1:p.Asp264His
NM_032335.3:c.793G>C , LRG_629t2:c.793G>C	NP_115711.2:p.Asp265His
NM_032458.2:c.790G>C	NP_115834.1:p.Asp264His
NM_001015877.2:c.790G>C MANE Select	NP_001015877.1:p.Asp264His
NM_032458.3:c.790G>C	NP_115834.1:p.Asp264His