Canonical Allele Identifier: CA10622570

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 357684
• ClinVar RCV Id: RCV000310874
• dbSNP Id: rs886061663
• gnomAD v2: 6-64430394-T-C
• gnomAD v3: 6-63720498-T-C
• gnomAD v4: 6-63720498-T-C
• MyVariant Identifiers: chr6:g.64430394T>C (hg19) ; chr6:g.63720498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720498T>C , CM000668.2:g.63720498T>C	GRCh38
NC_000006.11:g.64430394T>C , CM000668.1:g.64430394T>C	GRCh37
NC_000006.10:g.64488353T>C	NCBI36
NG_023443.1:g.1991725A>G
NG_023443.2:g.1991728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6790T>C (PHF3) MANE Select	ENSP00000262043.4:n.*6790T>C
ENST00000503581.6:c.*98A>G (EYS) MANE Select	ENSP00000424243.1:n.*98A>G
ENST00000370621.7:c.*98A>G (EYS)	ENSP00000359655.3:n.*98A>G
ENST00000503581.5:c.*98A>G (EYS)	ENSP00000424243.1:n.*98A>G
ENST00000505138.1:c.363+9136T>C (PHF3)
NM_001142800.1:c.*98A>G (EYS)	NP_001136272.1:n.*98A>G
NM_001292009.1:c.*98A>G (EYS)	NP_001278938.1:n.*98A>G
NM_001142800.2:c.*98A>G (EYS) MANE Select	NP_001136272.1:n.*98A>G
NM_001290259.2:c.*6790T>C (PHF3)	NP_001277188.1:n.*6790T>C
NM_001370348.2:c.*6790T>C (PHF3) MANE Select	NP_001357277.1:n.*6790T>C
NM_001370349.2:c.*6790T>C (PHF3)	NP_001357278.1:n.*6790T>C
NM_001370350.2:c.*6790T>C (PHF3)	NP_001357279.1:n.*6790T>C
NM_015153.4:c.*6790T>C (PHF3)	NP_055968.1:n.*6790T>C
NM_001292009.2:c.*98A>G (EYS)	NP_001278938.1:n.*98A>G