Canonical Allele Identifier: CA364384359

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 438210
• ClinVar RCV Id: RCV000504755 ; RCV000670630 ; RCV001857221
• dbSNP Id: rs1554163939
• gnomAD v4: 6-63721413-T-C
• MyVariant Identifiers: chr6:g.64431309T>C (hg19) ; chr6:g.63721413T>C (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721413T>C , CM000668.2:g.63721413T>C	GRCh38
NC_000006.11:g.64431309T>C , CM000668.1:g.64431309T>C	GRCh37
NC_000006.10:g.64489268T>C	NCBI36
NG_023443.1:g.1990810A>G
NG_023443.2:g.1990813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7705T>C (PHF3) MANE Select	ENSP00000262043.4:n.*7705T>C
ENST00000503581.6:c.8618A>G (EYS) MANE Select	ENSP00000424243.1:p.Asp2873Gly
ENST00000370616.6:c.8681A>G (EYS)	ENSP00000359650.2:p.Asp2894Gly
ENST00000370618.7:c.8618A>G (EYS)	ENSP00000359652.4:p.Asp2873Gly
ENST00000370621.7:c.8681A>G (EYS)	ENSP00000359655.3:p.Asp2894Gly
ENST00000503581.5:c.8618A>G (EYS)	ENSP00000424243.1:p.Asp2873Gly
ENST00000505138.1:c.363+10051T>C (PHF3)
NM_001142800.1:c.8618A>G (EYS)	NP_001136272.1:p.Asp2873Gly
NM_001292009.1:c.8681A>G (EYS)	NP_001278938.1:p.Asp2894Gly
NM_001142800.2:c.8618A>G (EYS) MANE Select	NP_001136272.1:p.Asp2873Gly
NM_001290259.2:c.*7705T>C (PHF3)	NP_001277188.1:n.*7705T>C
NM_001370348.2:c.*7705T>C (PHF3) MANE Select	NP_001357277.1:n.*7705T>C
NM_001370349.2:c.*7705T>C (PHF3)	NP_001357278.1:n.*7705T>C
NM_001370350.2:c.*7705T>C (PHF3)	NP_001357279.1:n.*7705T>C
NM_015153.4:c.*7705T>C (PHF3)	NP_055968.1:n.*7705T>C
NM_001292009.2:c.8681A>G (EYS)	NP_001278938.1:p.Asp2894Gly