Canonical Allele Identifier: CA3876701

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 1963335
• ClinVar RCV Id: RCV002711090
• dbSNP Id: rs752962568
• ExAC: 6:64431264 C / G
• gnomAD v2: 6-64431264-C-G
• gnomAD v4: 6-63721368-C-G
• MyVariant Identifiers: chr6:g.64431264C>G (hg19) ; chr6:g.63721368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721368C>G , CM000668.2:g.63721368C>G	GRCh38
NC_000006.11:g.64431264C>G , CM000668.1:g.64431264C>G	GRCh37
NC_000006.10:g.64489223C>G	NCBI36
NG_023443.1:g.1990855G>C
NG_023443.2:g.1990858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7660C>G (PHF3) MANE Select	ENSP00000262043.4:n.*7660C>G
ENST00000503581.6:c.8663G>C (EYS) MANE Select	ENSP00000424243.1:p.Gly2888Ala
ENST00000370616.6:c.8726G>C (EYS)	ENSP00000359650.2:p.Gly2909Ala
ENST00000370618.7:c.8663G>C (EYS)	ENSP00000359652.4:p.Gly2888Ala
ENST00000370621.7:c.8726G>C (EYS)	ENSP00000359655.3:p.Gly2909Ala
ENST00000503581.5:c.8663G>C (EYS)	ENSP00000424243.1:p.Gly2888Ala
ENST00000505138.1:c.363+10006C>G (PHF3)
NM_001142800.1:c.8663G>C (EYS)	NP_001136272.1:p.Gly2888Ala
NM_001292009.1:c.8726G>C (EYS)	NP_001278938.1:p.Gly2909Ala
NM_001142800.2:c.8663G>C (EYS) MANE Select	NP_001136272.1:p.Gly2888Ala
NM_001290259.2:c.*7660C>G (PHF3)	NP_001277188.1:n.*7660C>G
NM_001370348.2:c.*7660C>G (PHF3) MANE Select	NP_001357277.1:n.*7660C>G
NM_001370349.2:c.*7660C>G (PHF3)	NP_001357278.1:n.*7660C>G
NM_001370350.2:c.*7660C>G (PHF3)	NP_001357279.1:n.*7660C>G
NM_015153.4:c.*7660C>G (PHF3)	NP_055968.1:n.*7660C>G
NM_001292009.2:c.8726G>C (EYS)	NP_001278938.1:p.Gly2909Ala