Canonical Allele Identifier: CA256662

Gene: RHO

Linked Data

• ClinVar Variation Id: 13014
• ClinVar RCV Id: RCV000013888 ; RCV000490027 ; RCV000504743 ; RCV001075874 ; RCV000626702 ; RCV003989284
• dbSNP Id: rs29001566
• ExAC: 3:129252554 C / T
• gnomAD v2: 3-129252554-C-T
• gnomAD v3: 3-129533711-C-T
• gnomAD v4: 3-129533711-C-T
• MyVariant Identifiers: chr3:g.129252554C>T (hg19) ; chr3:g.129533711C>T (hg38)
• PubMed: PMID:2215617 ; PMID:20555336 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129533711C>T , CM000665.2:g.129533711C>T	GRCh38
NC_000003.11:g.129252554C>T , CM000665.1:g.129252554C>T	GRCh37
NC_000003.10:g.130735244C>T	NCBI36
NG_009115.1:g.10073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.1040C>T MANE Select	ENSP00000296271.3:p.Pro347Leu
ENST00000296271.3:c.1040C>T	ENSP00000296271.3:p.Pro347Leu
NM_000539.3:c.1040C>T MANE Select	NP_000530.1:p.Pro347Leu