Canonical Allele Identifier: CA414713270

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415088G>C , CM000685.2:g.134415088G>C	GRCh38
NC_000023.10:g.133549118G>C , CM000685.1:g.133549118G>C	GRCh37
NC_000023.9:g.133376784G>C	NCBI36
NG_008886.1:g.46777G>C , LRG_629:g.46777G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.802G>C MANE Select	NP_001015877.1:p.Val268Leu
ENST00000370803.8:c.802G>C MANE Select	ENSP00000359839.4:p.Val268Leu
NM_001015877.1:c.802G>C , LRG_629t1:c.802G>C	NP_001015877.1:p.Val268Leu
NM_032335.3:c.805G>C , LRG_629t2:c.805G>C	NP_115711.2:p.Val269Leu
NM_032458.2:c.802G>C	NP_115834.1:p.Val268Leu
NM_032458.3:c.802G>C	NP_115834.1:p.Val268Leu
ENST00000332070.7:c.802G>C	ENSP00000329097.3:p.Val268Leu
ENST00000370799.5:c.805G>C	ENSP00000359835.1:p.Val269Leu
ENST00000370800.4:c.805G>C	ENSP00000359836.4:p.Val269Leu
ENST00000370803.7:c.802G>C	ENSP00000359839.3:p.Val268Leu
ENST00000625464.2:c.805G>C	ENSP00000487420.1:p.Val269Leu
ENST00000685553.1:c.*721G>C	ENSP00000510193.1:n.*721G>C
ENST00000687496.1:c.700G>C	ENSP00000509551.1:p.Val234Leu
ENST00000688598.1:c.700G>C	ENSP00000510410.1:p.Val234Leu
ENST00000691812.1:c.802G>C	ENSP00000510211.1:p.Val268Leu
ENST00000693759.1:c.*414G>C	ENSP00000509518.1:n.*414G>C