Canonical Allele Identifier: CA2607346

Gene: RHO

Linked Data

• ClinVar Variation Id: 343282
• ClinVar RCV Id: RCV000295474 ; RCV000380819 ; RCV001322065 ; RCV003401364
• dbSNP Id: rs138831590
• ExAC: 3:129252473 C / A
• gnomAD v2: 3-129252473-C-A
• gnomAD v3: 3-129533630-C-A
• gnomAD v4: 3-129533630-C-A
• MyVariant Identifiers: chr3:g.129252473C>A (hg19) ; chr3:g.129533630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129533630C>A , CM000665.2:g.129533630C>A	GRCh38
NC_000003.11:g.129252473C>A , CM000665.1:g.129252473C>A	GRCh37
NC_000003.10:g.130735163C>A	NCBI36
NG_009115.1:g.9992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.959C>A MANE Select	ENSP00000296271.3:p.Thr320Asn
ENST00000296271.3:c.959C>A	ENSP00000296271.3:p.Thr320Asn
NM_000539.3:c.959C>A MANE Select	NP_000530.1:p.Thr320Asn