Canonical Allele Identifier: CA2607346
Gene: RHO HGNC NCBI

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)
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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
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