Canonical Allele Identifier: CA270070

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 143115
• ClinVar RCV Id: RCV000132636 ; RCV000803751 ; RCV001074003 ; RCV001808400
• dbSNP Id: rs527236067
• gnomAD v2: 6-64431122-G-T
• gnomAD v3: 6-63721226-G-T
• gnomAD v4: 6-63721226-G-T
• COSMIC: COSM1187074
• MyVariant Identifiers: chr6:g.64431122G>T (hg19) ; chr6:g.63721226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721226G>T , CM000668.2:g.63721226G>T	GRCh38
NC_000006.11:g.64431122G>T , CM000668.1:g.64431122G>T	GRCh37
NC_000006.10:g.64489081G>T	NCBI36
NG_023443.1:g.1990997C>A
NG_023443.2:g.1991000C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262043.8:c.*7518G>T (PHF3) MANE Select	ENSP00000262043.4:n.*7518G>T
ENST00000503581.6:c.8805C>A (EYS) MANE Select	ENSP00000424243.1:p.Tyr2935Ter
ENST00000370616.6:c.8868C>A (EYS)	ENSP00000359650.2:p.Tyr2956Ter
ENST00000370618.7:c.8805C>A (EYS)	ENSP00000359652.4:p.Tyr2935Ter
ENST00000370621.7:c.8868C>A (EYS)	ENSP00000359655.3:p.Tyr2956Ter
ENST00000503581.5:c.8805C>A (EYS)	ENSP00000424243.1:p.Tyr2935Ter
ENST00000505138.1:c.363+9864G>T (PHF3)
NM_001142800.1:c.8805C>A (EYS)	NP_001136272.1:p.Tyr2935Ter
NM_001292009.1:c.8868C>A (EYS)	NP_001278938.1:p.Tyr2956Ter
NM_001142800.2:c.8805C>A (EYS) MANE Select	NP_001136272.1:p.Tyr2935Ter
NM_001290259.2:c.*7518G>T (PHF3)	NP_001277188.1:n.*7518G>T
NM_001370348.2:c.*7518G>T (PHF3) MANE Select	NP_001357277.1:n.*7518G>T
NM_001370349.2:c.*7518G>T (PHF3)	NP_001357278.1:n.*7518G>T
NM_001370350.2:c.*7518G>T (PHF3)	NP_001357279.1:n.*7518G>T
NM_015153.4:c.*7518G>T (PHF3)	NP_055968.1:n.*7518G>T
NM_001292009.2:c.8868C>A (EYS)	NP_001278938.1:p.Tyr2956Ter