Canonical Allele Identifier: CA354470800

Gene: RHO

Linked Data

• ClinVar Variation Id: 955802
• ClinVar RCV Id: RCV001228505 ; RCV001265163
• dbSNP Id: rs2084793009
• MyVariant Identifiers: chr3:g.129251567G>C (hg19) ; chr3:g.129532724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532724G>C , CM000665.2:g.129532724G>C	GRCh38
NC_000003.11:g.129251567G>C , CM000665.1:g.129251567G>C	GRCh37
NC_000003.10:g.130734257G>C	NCBI36
NG_009115.1:g.9086G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.888G>C MANE Select	ENSP00000296271.3:p.Lys296Asn
ENST00000296271.3:c.888G>C	ENSP00000296271.3:p.Lys296Asn
NM_000539.3:c.888G>C MANE Select	NP_000530.1:p.Lys296Asn