Canonical Allele Identifier: CA3876667

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 444685
• ClinVar RCV Id: RCV000513040 ; RCV001162434 ; RCV001271835 ; RCV002248747 ; RCV001376277
• dbSNP Id: rs772888249
• ExAC: 6:64430535 C / G
• gnomAD v2: 6-64430535-C-G
• gnomAD v3: 6-63720639-C-G
• gnomAD v4: 6-63720639-C-G
• MyVariant Identifiers: chr6:g.64430535C>G (hg19) ; chr6:g.64430535_64430538delinsGCTT (hg19) ; chr6:g.63720639C>G (hg38) ; chr6:g.63720639_63720642delinsGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720639C>G , CM000668.2:g.63720639C>G	GRCh38
NC_000006.11:g.64430535C>G , CM000668.1:g.64430535C>G	GRCh37
NC_000006.10:g.64488494C>G	NCBI36
NG_023443.1:g.1991584G>C
NG_023443.2:g.1991587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6931C>G (PHF3) MANE Select	ENSP00000262043.4:n.*6931C>G
ENST00000503581.6:c.9392G>C (EYS) MANE Select	ENSP00000424243.1:p.Gly3131Ala
ENST00000370616.6:c.9455G>C (EYS)	ENSP00000359650.2:p.Gly3152Ala
ENST00000370618.7:c.9392G>C (EYS)	ENSP00000359652.4:p.Gly3131Ala
ENST00000370621.7:c.9455G>C (EYS)	ENSP00000359655.3:p.Gly3152Ala
ENST00000503581.5:c.9392G>C (EYS)	ENSP00000424243.1:p.Gly3131Ala
ENST00000505138.1:c.363+9277C>G (PHF3)
NM_001142800.1:c.9392G>C (EYS)	NP_001136272.1:p.Gly3131Ala
NM_001292009.1:c.9455G>C (EYS)	NP_001278938.1:p.Gly3152Ala
NM_001142800.2:c.9392G>C (EYS) MANE Select	NP_001136272.1:p.Gly3131Ala
NM_001290259.2:c.*6931C>G (PHF3)	NP_001277188.1:n.*6931C>G
NM_001370348.2:c.*6931C>G (PHF3) MANE Select	NP_001357277.1:n.*6931C>G
NM_001370349.2:c.*6931C>G (PHF3)	NP_001357278.1:n.*6931C>G
NM_001370350.2:c.*6931C>G (PHF3)	NP_001357279.1:n.*6931C>G
NM_015153.4:c.*6931C>G (PHF3)	NP_055968.1:n.*6931C>G
NM_001292009.2:c.9455G>C (EYS)	NP_001278938.1:p.Gly3152Ala