Canonical Allele Identifier: CA270067

Gene: EYS PHF3

Linked Data

• ClinVar Variation Id: 143113
• ClinVar RCV Id: RCV000132634 ; RCV001212734 ; RCV001826795 ; RCV003905241 ; RCV003888557
• dbSNP Id: rs527236076
• gnomAD v2: 6-64472413-A-T
• gnomAD v4: 6-63762520-A-T
• COSMIC: COSM5016805
• MyVariant Identifiers: chr6:g.64472413A>T (hg19) ; chr6:g.63762520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63762520A>T , CM000668.2:g.63762520A>T	GRCh38
NC_000006.11:g.64472413A>T , CM000668.1:g.64472413A>T	GRCh37
NC_000006.10:g.64530372A>T	NCBI36
NG_023443.1:g.1949706T>A
NG_023443.2:g.1949706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.8012T>A (EYS) MANE Select	ENSP00000424243.1:p.Leu2671Ter
ENST00000370616.6:c.8012T>A (EYS)	ENSP00000359650.2:p.Leu2671Ter
ENST00000370618.7:c.8012T>A (EYS)	ENSP00000359652.4:p.Leu2671Ter
ENST00000370621.7:c.8012T>A (EYS)	ENSP00000359655.3:p.Leu2671Ter
ENST00000398580.3:c.1326T>A (EYS)
ENST00000503581.5:c.8012T>A (EYS)	ENSP00000424243.1:p.Leu2671Ter
ENST00000505138.1:c.364-15546A>T (PHF3)
NM_001142800.1:c.8012T>A (EYS)	NP_001136272.1:p.Leu2671Ter
NM_001292009.1:c.8012T>A (EYS)	NP_001278938.1:p.Leu2671Ter
NM_001142800.2:c.8012T>A (EYS) MANE Select	NP_001136272.1:p.Leu2671Ter
NM_001292009.2:c.8012T>A (EYS)	NP_001278938.1:p.Leu2671Ter