Canonical Allele Identifier: CA82620660
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2707395
ClinVar RCV Id: RCV003544855
dbSNP Id: rs764590515
gnomAD v4: 3-129532430-G-C
MyVariant Identifiers: chr3:g.129532430G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532430G>C , CM000665.2:g.129532430G>C GRCh38
NC_000003.11:g.129251273G>C , CM000665.1:g.129251273G>C GRCh37
NC_000003.10:g.130733963G>C NCBI36
NG_009115.1:g.8792G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.696+14G>C MANE Select ENSP00000296271.3:n.696+14G>C
ENST00000296271.3:c.696+14G>C ENSP00000296271.3:n.696+14G>C
NM_000539.3:c.696+14G>C MANE Select NP_000530.1:n.696+14G>C
Search 100 bp 5'
Search 100 bp 3'