Canonical Allele Identifier: CA82648441

Gene: RHO

Linked Data

• ClinVar Variation Id: 1610901
• ClinVar RCV Id: RCV002145611
• dbSNP Id: rs957907715
• gnomAD v4: 3-129530865-C-T
• MyVariant Identifiers: chr3:g.129249708C>T (hg19) ; chr3:g.129530865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530865C>T , CM000665.2:g.129530865C>T	GRCh38
NC_000003.11:g.129249708C>T , CM000665.1:g.129249708C>T	GRCh37
NC_000003.10:g.130732398C>T	NCBI36
NG_009115.1:g.7227C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.362-11C>T MANE Select	ENSP00000296271.3:n.362-11C>T
ENST00000296271.3:c.362-11C>T	ENSP00000296271.3:n.362-11C>T
NM_000539.3:c.362-11C>T MANE Select	NP_000530.1:n.362-11C>T