Canonical Allele Identifier: CA364384523

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 503517
• ClinVar RCV Id: RCV000597091 ; RCV002248812 ; RCV003889932
• dbSNP Id: rs1326635278
• gnomAD v3: 6-63721486-G-A
• gnomAD v4: 6-63721486-G-A
• MyVariant Identifiers: chr6:g.64431382G>A (hg19) ; chr6:g.63721486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721486G>A , CM000668.2:g.63721486G>A	GRCh38
NC_000006.11:g.64431382G>A , CM000668.1:g.64431382G>A	GRCh37
NC_000006.10:g.64489341G>A	NCBI36
NG_023443.1:g.1990737C>T
NG_023443.2:g.1990740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7778G>A (PHF3) MANE Select	ENSP00000262043.4:n.*7778G>A
ENST00000503581.6:c.8545C>T (EYS) MANE Select	ENSP00000424243.1:p.Arg2849Ter
ENST00000370616.6:c.8608C>T (EYS)	ENSP00000359650.2:p.Arg2870Ter
ENST00000370618.7:c.8545C>T (EYS)	ENSP00000359652.4:p.Arg2849Ter
ENST00000370621.7:c.8608C>T (EYS)	ENSP00000359655.3:p.Arg2870Ter
ENST00000503581.5:c.8545C>T (EYS)	ENSP00000424243.1:p.Arg2849Ter
ENST00000505138.1:c.363+10124G>A (PHF3)
NM_001142800.1:c.8545C>T (EYS)	NP_001136272.1:p.Arg2849Ter
NM_001292009.1:c.8608C>T (EYS)	NP_001278938.1:p.Arg2870Ter
NM_001142800.2:c.8545C>T (EYS) MANE Select	NP_001136272.1:p.Arg2849Ter
NM_001290259.2:c.*7778G>A (PHF3)	NP_001277188.1:n.*7778G>A
NM_001370348.2:c.*7778G>A (PHF3) MANE Select	NP_001357277.1:n.*7778G>A
NM_001370349.2:c.*7778G>A (PHF3)	NP_001357278.1:n.*7778G>A
NM_001370350.2:c.*7778G>A (PHF3)	NP_001357279.1:n.*7778G>A
NM_015153.4:c.*7778G>A (PHF3)	NP_055968.1:n.*7778G>A
NM_001292009.2:c.8608C>T (EYS)	NP_001278938.1:p.Arg2870Ter