Canonical Allele Identifier: CA2607233
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1350685
ClinVar RCV Id: RCV002042054
dbSNP Id: rs141956356
ExAC: 3:129251223 T / G
gnomAD v2: 3-129251223-T-G
gnomAD v3: 3-129532380-T-G
gnomAD v4: 3-129532380-T-G
MyVariant Identifiers: chr3:g.129251223T>G (hg19) chr3:g.129532380T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532380T>G , CM000665.2:g.129532380T>G GRCh38
NC_000003.11:g.129251223T>G , CM000665.1:g.129251223T>G GRCh37
NC_000003.10:g.130733913T>G NCBI36
NG_009115.1:g.8742T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.660T>G MANE Select ENSP00000296271.3:p.Phe220Leu
ENST00000296271.3:c.660T>G ENSP00000296271.3:p.Phe220Leu
NM_000539.3:c.660T>G MANE Select NP_000530.1:p.Phe220Leu
Search 100 bp 5'
Search 100 bp 3'