Canonical Allele Identifier: CA2694738261

Gene: PHF6

Linked Data

• gnomAD v4: X-134413774-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413774C>G , CM000685.2:g.134413774C>G	GRCh38
NC_000023.10:g.133547804C>G , CM000685.1:g.133547804C>G	GRCh37
NC_000023.9:g.133375470C>G	NCBI36
NG_008886.1:g.45463C>G , LRG_629:g.45463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*505-49C>G	ENSP00000510193.1:n.*505-49C>G
ENST00000687496.1:c.484-49C>G	ENSP00000509551.1:n.484-49C>G
ENST00000688598.1:c.484-49C>G	ENSP00000510410.1:n.484-49C>G
ENST00000691812.1:c.586-49C>G	ENSP00000510211.1:n.586-49C>G
ENST00000693759.1:c.*198-49C>G	ENSP00000509518.1:n.*198-49C>G
ENST00000370803.8:c.586-49C>G MANE Select	ENSP00000359839.4:n.586-49C>G
ENST00000332070.7:c.586-49C>G	ENSP00000329097.3:n.586-49C>G
ENST00000370799.5:c.589-49C>G	ENSP00000359835.1:n.589-49C>G
ENST00000370800.4:c.589-49C>G	ENSP00000359836.4:n.589-49C>G
ENST00000370803.7:c.586-49C>G	ENSP00000359839.3:n.586-49C>G
ENST00000625464.2:c.589-49C>G	ENSP00000487420.1:n.589-49C>G
NM_001015877.1:c.586-49C>G , LRG_629t1:c.586-49C>G	NP_001015877.1:n.586-49C>G
NM_032335.3:c.589-49C>G , LRG_629t2:c.589-49C>G	NP_115711.2:n.589-49C>G
NM_032458.2:c.586-49C>G	NP_115834.1:n.586-49C>G
NM_001015877.2:c.586-49C>G MANE Select	NP_001015877.1:n.586-49C>G
NM_032458.3:c.586-49C>G	NP_115834.1:n.586-49C>G