Canonical Allele Identifier: CA414707783

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134417224G>T , CM000685.2:g.134417224G>T	GRCh38
NC_000023.10:g.133551254G>T , CM000685.1:g.133551254G>T	GRCh37
NC_000023.9:g.133378920G>T	NCBI36
NG_008886.1:g.48913G>T , LRG_629:g.48913G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.890G>T MANE Select	NP_001015877.1:p.Cys297Phe
ENST00000370803.8:c.890G>T MANE Select	ENSP00000359839.4:p.Cys297Phe
NM_001015877.1:c.890G>T , LRG_629t1:c.890G>T	NP_001015877.1:p.Cys297Phe
NM_032458.2:c.890G>T	NP_115834.1:p.Cys297Phe
NM_032458.3:c.890G>T	NP_115834.1:p.Cys297Phe
ENST00000332070.7:c.890G>T	ENSP00000329097.3:p.Cys297Phe
ENST00000370799.5:c.893G>T	ENSP00000359835.1:p.Cys298Phe
ENST00000370803.7:c.890G>T	ENSP00000359839.3:p.Cys297Phe
ENST00000625464.2:c.893G>T	ENSP00000487420.1:p.Cys298Phe
ENST00000685553.1:c.*809G>T	ENSP00000510193.1:n.*809G>T
ENST00000687496.1:c.788G>T	ENSP00000509551.1:p.Cys263Phe
ENST00000688598.1:c.788G>T	ENSP00000510410.1:p.Cys263Phe
ENST00000691812.1:c.890G>T	ENSP00000510211.1:p.Cys297Phe
ENST00000693759.1:c.*502G>T	ENSP00000509518.1:n.*502G>T