Canonical Allele Identifier: CA414713069

Gene: PHF6

Linked Data

• COSMIC: COSM4385507 ; COSM4385508 ; COSM4385509
• MyVariant Identifiers: chrX:g.133547986A>G (hg19) ; chrX:g.134413956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413956A>G , CM000685.2:g.134413956A>G	GRCh38
NC_000023.10:g.133547986A>G , CM000685.1:g.133547986A>G	GRCh37
NC_000023.9:g.133375652A>G	NCBI36
NG_008886.1:g.45645A>G , LRG_629:g.45645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*638A>G	ENSP00000510193.1:n.*638A>G
ENST00000687496.1:c.617A>G	ENSP00000509551.1:p.Tyr206Cys
ENST00000688598.1:c.617A>G	ENSP00000510410.1:p.Tyr206Cys
ENST00000691812.1:c.719A>G	ENSP00000510211.1:p.Tyr240Cys
ENST00000693759.1:c.*331A>G	ENSP00000509518.1:n.*331A>G
ENST00000370803.8:c.719A>G MANE Select	ENSP00000359839.4:p.Tyr240Cys
ENST00000332070.7:c.719A>G	ENSP00000329097.3:p.Tyr240Cys
ENST00000370799.5:c.722A>G	ENSP00000359835.1:p.Tyr241Cys
ENST00000370800.4:c.722A>G	ENSP00000359836.4:p.Tyr241Cys
ENST00000370803.7:c.719A>G	ENSP00000359839.3:p.Tyr240Cys
ENST00000625464.2:c.722A>G	ENSP00000487420.1:p.Tyr241Cys
NM_001015877.1:c.719A>G , LRG_629t1:c.719A>G	NP_001015877.1:p.Tyr240Cys
NM_032335.3:c.722A>G , LRG_629t2:c.722A>G	NP_115711.2:p.Tyr241Cys
NM_032458.2:c.719A>G	NP_115834.1:p.Tyr240Cys
NM_001015877.2:c.719A>G MANE Select	NP_001015877.1:p.Tyr240Cys
NM_032458.3:c.719A>G	NP_115834.1:p.Tyr240Cys