Canonical Allele Identifier: CA2607168

Gene: RHO

Linked Data

• ClinVar Variation Id: 343277
• ClinVar RCV Id: RCV000309251 ; RCV000389975 ; RCV000732353 ; RCV001700071
• dbSNP Id: rs151063543
• ExAC: 3:129249837 C / A
• gnomAD v2: 3-129249837-C-A
• gnomAD v3: 3-129530994-C-A
• gnomAD v4: 3-129530994-C-A
• MyVariant Identifiers: chr3:g.129249837C>A (hg19) ; chr3:g.129530994C>A (hg38)
• PubMed: PMID:8162026 ; PMID:11139241

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530994C>A , CM000665.2:g.129530994C>A	GRCh38
NC_000003.11:g.129249837C>A , CM000665.1:g.129249837C>A	GRCh37
NC_000003.10:g.130732527C>A	NCBI36
NG_009115.1:g.7356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.480C>A MANE Select	ENSP00000296271.3:p.Thr160=
ENST00000296271.3:c.480C>A	ENSP00000296271.3:p.Thr160=
NM_000539.3:c.480C>A MANE Select	NP_000530.1:p.Thr160=