Canonical Allele Identifier: CA364384263

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 943519
• ClinVar RCV Id: RCV001213720 ; RCV003462720
• dbSNP Id: rs1768381543
• gnomAD v3: 6-63721372-C-A
• gnomAD v4: 6-63721372-C-A
• MyVariant Identifiers: chr6:g.64431268C>A (hg19) ; chr6:g.63721372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721372C>A , CM000668.2:g.63721372C>A	GRCh38
NC_000006.11:g.64431268C>A , CM000668.1:g.64431268C>A	GRCh37
NC_000006.10:g.64489227C>A	NCBI36
NG_023443.1:g.1990851G>T
NG_023443.2:g.1990854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7664C>A (PHF3) MANE Select	ENSP00000262043.4:n.*7664C>A
ENST00000503581.6:c.8659G>T (EYS) MANE Select	ENSP00000424243.1:p.Gly2887Ter
ENST00000370616.6:c.8722G>T (EYS)	ENSP00000359650.2:p.Gly2908Ter
ENST00000370618.7:c.8659G>T (EYS)	ENSP00000359652.4:p.Gly2887Ter
ENST00000370621.7:c.8722G>T (EYS)	ENSP00000359655.3:p.Gly2908Ter
ENST00000503581.5:c.8659G>T (EYS)	ENSP00000424243.1:p.Gly2887Ter
ENST00000505138.1:c.363+10010C>A (PHF3)
NM_001142800.1:c.8659G>T (EYS)	NP_001136272.1:p.Gly2887Ter
NM_001292009.1:c.8722G>T (EYS)	NP_001278938.1:p.Gly2908Ter
NM_001142800.2:c.8659G>T (EYS) MANE Select	NP_001136272.1:p.Gly2887Ter
NM_001290259.2:c.*7664C>A (PHF3)	NP_001277188.1:n.*7664C>A
NM_001370348.2:c.*7664C>A (PHF3) MANE Select	NP_001357277.1:n.*7664C>A
NM_001370349.2:c.*7664C>A (PHF3)	NP_001357278.1:n.*7664C>A
NM_001370350.2:c.*7664C>A (PHF3)	NP_001357279.1:n.*7664C>A
NM_015153.4:c.*7664C>A (PHF3)	NP_055968.1:n.*7664C>A
NM_001292009.2:c.8722G>T (EYS)	NP_001278938.1:p.Gly2908Ter