Canonical Allele Identifier: CA2607302

Gene: RHO

Linked Data

• ClinVar Variation Id: 932140
• ClinVar RCV Id: RCV001199359 ; RCV002559273
• dbSNP Id: rs781237162
• ExAC: 3:129251571 G / A
• gnomAD v2: 3-129251571-G-A
• gnomAD v3: 3-129532728-G-A
• gnomAD v4: 3-129532728-G-A
• COSMIC: COSM1484589
• MyVariant Identifiers: chr3:g.129251571G>A (hg19) ; chr3:g.129532728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532728G>A , CM000665.2:g.129532728G>A	GRCh38
NC_000003.11:g.129251571G>A , CM000665.1:g.129251571G>A	GRCh37
NC_000003.10:g.130734261G>A	NCBI36
NG_009115.1:g.9090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.892G>A MANE Select	ENSP00000296271.3:p.Ala298Thr
ENST00000296271.3:c.892G>A	ENSP00000296271.3:p.Ala298Thr
NM_000539.3:c.892G>A MANE Select	NP_000530.1:p.Ala298Thr