Canonical Allele Identifier: CA2607232
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2203437
ClinVar RCV Id: RCV002664319
dbSNP Id: rs766161322
ExAC: 3:129251222 T / G
gnomAD v2: 3-129251222-T-G
gnomAD v4: 3-129532379-T-G
MyVariant Identifiers: chr3:g.129251222T>G (hg19) chr3:g.129532379T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532379T>G , CM000665.2:g.129532379T>G GRCh38
NC_000003.11:g.129251222T>G , CM000665.1:g.129251222T>G GRCh37
NC_000003.10:g.130733912T>G NCBI36
NG_009115.1:g.8741T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.659T>G MANE Select ENSP00000296271.3:p.Phe220Cys
ENST00000296271.3:c.659T>G ENSP00000296271.3:p.Phe220Cys
NM_000539.3:c.659T>G MANE Select NP_000530.1:p.Phe220Cys
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