Canonical Allele Identifier: CA450862550

Linked Data

ClinVar Variation Id: 1668510
ClinVar RCV Id: RCV002196015
dbSNP Id: rs1371323147
gnomAD v2: 6-64431257-A-G
gnomAD v3: 6-63721361-A-G
gnomAD v4: 6-63721361-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63721361A>G , CM000668.2:g.63721361A>G GRCh38
NC_000006.11:g.64431257A>G , CM000668.1:g.64431257A>G GRCh37
NC_000006.10:g.64489216A>G NCBI36
NG_023443.1:g.1990862T>C
NG_023443.2:g.1990865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262043.8:c.*7653A>G (PHF3) MANE Select ENSP00000262043.4:n.*7653A>G
ENST00000503581.6:c.8670T>C (EYS) MANE Select ENSP00000424243.1:p.Cys2890=
ENST00000370616.6:c.8733T>C (EYS) ENSP00000359650.2:p.Cys2911=
ENST00000370618.7:c.8670T>C (EYS) ENSP00000359652.4:p.Cys2890=
ENST00000370621.7:c.8733T>C (EYS) ENSP00000359655.3:p.Cys2911=
ENST00000503581.5:c.8670T>C (EYS) ENSP00000424243.1:p.Cys2890=
ENST00000505138.1:c.363+9999A>G (PHF3)
NM_001142800.1:c.8670T>C (EYS) NP_001136272.1:p.Cys2890=
NM_001292009.1:c.8733T>C (EYS) NP_001278938.1:p.Cys2911=
NM_001142800.2:c.8670T>C (EYS) MANE Select NP_001136272.1:p.Cys2890=
NM_001290259.2:c.*7653A>G (PHF3) NP_001277188.1:n.*7653A>G
NM_001370348.2:c.*7653A>G (PHF3) MANE Select NP_001357277.1:n.*7653A>G
NM_001370349.2:c.*7653A>G (PHF3) NP_001357278.1:n.*7653A>G
NM_001370350.2:c.*7653A>G (PHF3) NP_001357279.1:n.*7653A>G
NM_015153.4:c.*7653A>G (PHF3) NP_055968.1:n.*7653A>G
NM_001292009.2:c.8733T>C (EYS) NP_001278938.1:p.Cys2911=