Canonical Allele Identifier: CA121322
Gene: PHF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 11065
ClinVar RCV Id: RCV000011814
dbSNP Id: rs104894917

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134413937A>G , CM000685.2:g.134413937A>G GRCh38
NC_000023.10:g.133547967A>G , CM000685.1:g.133547967A>G GRCh37
NC_000023.9:g.133375633A>G NCBI36
NG_008886.1:g.45626A>G , LRG_629:g.45626A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000685553.1:c.*619A>G ENSP00000510193.1:n.*619A>G
ENST00000687496.1:c.598A>G ENSP00000509551.1:p.Lys200Glu
ENST00000688598.1:c.598A>G ENSP00000510410.1:p.Lys200Glu
ENST00000691812.1:c.700A>G ENSP00000510211.1:p.Lys234Glu
ENST00000693759.1:c.*312A>G ENSP00000509518.1:n.*312A>G
ENST00000370803.8:c.700A>G MANE Select ENSP00000359839.4:p.Lys234Glu
ENST00000332070.7:c.700A>G ENSP00000329097.3:p.Lys234Glu
ENST00000370799.5:c.703A>G ENSP00000359835.1:p.Lys235Glu
ENST00000370800.4:c.703A>G ENSP00000359836.4:p.Lys235Glu
ENST00000370803.7:c.700A>G ENSP00000359839.3:p.Lys234Glu
ENST00000625464.2:c.703A>G ENSP00000487420.1:p.Lys235Glu
NM_001015877.1:c.700A>G , LRG_629t1:c.700A>G NP_001015877.1:p.Lys234Glu
NM_032335.3:c.703A>G , LRG_629t2:c.703A>G NP_115711.2:p.Lys235Glu
NM_032458.2:c.700A>G NP_115834.1:p.Lys234Glu
NM_001015877.2:c.700A>G MANE Select NP_001015877.1:p.Lys234Glu
NM_032458.3:c.700A>G NP_115834.1:p.Lys234Glu