Canonical Allele Identifier: CA3876709

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 287296
• ClinVar RCV Id: RCV000333936 ; RCV000665932 ; RCV000965012 ; RCV001164471
• dbSNP Id: rs144513453
• ExAC: 6:64431498 G / A
• gnomAD v2: 6-64431498-G-A
• gnomAD v3: 6-63721602-G-A
• gnomAD v4: 6-63721602-G-A
• MyVariant Identifiers: chr6:g.64431498G>A (hg19) ; chr6:g.63721602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721602G>A , CM000668.2:g.63721602G>A	GRCh38
NC_000006.11:g.64431498G>A , CM000668.1:g.64431498G>A	GRCh37
NC_000006.10:g.64489457G>A	NCBI36
NG_023443.1:g.1990621C>T
NG_023443.2:g.1990624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7894G>A (PHF3) MANE Select	ENSP00000262043.4:n.*7894G>A
ENST00000503581.6:c.8429C>T (EYS) MANE Select	ENSP00000424243.1:p.Thr2810Ile
ENST00000370616.6:c.8492C>T (EYS)	ENSP00000359650.2:p.Thr2831Ile
ENST00000370618.7:c.8429C>T (EYS)	ENSP00000359652.4:p.Thr2810Ile
ENST00000370621.7:c.8492C>T (EYS)	ENSP00000359655.3:p.Thr2831Ile
ENST00000503581.5:c.8429C>T (EYS)	ENSP00000424243.1:p.Thr2810Ile
ENST00000505138.1:c.363+10240G>A (PHF3)
NM_001142800.1:c.8429C>T (EYS)	NP_001136272.1:p.Thr2810Ile
NM_001292009.1:c.8492C>T (EYS)	NP_001278938.1:p.Thr2831Ile
NM_001142800.2:c.8429C>T (EYS) MANE Select	NP_001136272.1:p.Thr2810Ile
NM_001290259.2:c.*7894G>A (PHF3)	NP_001277188.1:n.*7894G>A
NM_001370348.2:c.*7894G>A (PHF3) MANE Select	NP_001357277.1:n.*7894G>A
NM_001370349.2:c.*7894G>A (PHF3)	NP_001357278.1:n.*7894G>A
NM_001370350.2:c.*7894G>A (PHF3)	NP_001357279.1:n.*7894G>A
NM_015153.4:c.*7894G>A (PHF3)	NP_055968.1:n.*7894G>A
NM_001292009.2:c.8492C>T (EYS)	NP_001278938.1:p.Thr2831Ile