Canonical Allele Identifier: CA2694738367

Gene: PHF6

Linked Data

• gnomAD v4: X-134414966-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134414966T>C , CM000685.2:g.134414966T>C	GRCh38
NC_000023.10:g.133548996T>C , CM000685.1:g.133548996T>C	GRCh37
NC_000023.9:g.133376662T>C	NCBI36
NG_008886.1:g.46655T>C , LRG_629:g.46655T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000685553.1:c.*649-50T>C	ENSP00000510193.1:n.*649-50T>C
ENST00000687496.1:c.628-50T>C	ENSP00000509551.1:n.628-50T>C
ENST00000688598.1:c.628-50T>C	ENSP00000510410.1:n.628-50T>C
ENST00000691812.1:c.730-50T>C	ENSP00000510211.1:n.730-50T>C
ENST00000693759.1:c.*342-50T>C	ENSP00000509518.1:n.*342-50T>C
ENST00000370803.8:c.730-50T>C MANE Select	ENSP00000359839.4:n.730-50T>C
ENST00000332070.7:c.730-50T>C	ENSP00000329097.3:n.730-50T>C
ENST00000370799.5:c.733-50T>C	ENSP00000359835.1:n.733-50T>C
ENST00000370800.4:c.733-50T>C	ENSP00000359836.4:n.733-50T>C
ENST00000370803.7:c.730-50T>C	ENSP00000359839.3:n.730-50T>C
ENST00000625464.2:c.733-50T>C	ENSP00000487420.1:n.733-50T>C
NM_001015877.1:c.730-50T>C , LRG_629t1:c.730-50T>C	NP_001015877.1:n.730-50T>C
NM_032335.3:c.733-50T>C , LRG_629t2:c.733-50T>C	NP_115711.2:n.733-50T>C
NM_032458.2:c.730-50T>C	NP_115834.1:n.730-50T>C
NM_001015877.2:c.730-50T>C MANE Select	NP_001015877.1:n.730-50T>C
NM_032458.3:c.730-50T>C	NP_115834.1:n.730-50T>C