Canonical Allele Identifier: CA2607084

Gene: RHO

Linked Data

• ClinVar Variation Id: 636082
• ClinVar RCV Id: RCV000787677 ; RCV001041417
• dbSNP Id: rs137883686
• ExAC: 3:129247779 T / G
• gnomAD v2: 3-129247779-T-G
• gnomAD v3: 3-129528936-T-G
• gnomAD v4: 3-129528936-T-G
• MyVariant Identifiers: chr3:g.129247779T>G (hg19) ; chr3:g.129528936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528936T>G , CM000665.2:g.129528936T>G	GRCh38
NC_000003.11:g.129247779T>G , CM000665.1:g.129247779T>G	GRCh37
NC_000003.10:g.130730469T>G	NCBI36
NG_009115.1:g.5298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.203T>G MANE Select	ENSP00000296271.3:p.Leu68Arg
ENST00000296271.3:c.203T>G	ENSP00000296271.3:p.Leu68Arg
NM_000539.3:c.203T>G MANE Select	NP_000530.1:p.Leu68Arg