Canonical Allele Identifier: CA2607148

Gene: RHO

Linked Data

• ClinVar Variation Id: 343276
• ClinVar RCV Id: RCV000315073 ; RCV000362714 ; RCV000592809 ; RCV000910360
• dbSNP Id: rs146311684
• ExAC: 3:129249738 C / G
• gnomAD v2: 3-129249738-C-G
• gnomAD v3: 3-129530895-C-G
• gnomAD v4: 3-129530895-C-G
• MyVariant Identifiers: chr3:g.129249738C>G (hg19) ; chr3:g.129530895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530895C>G , CM000665.2:g.129530895C>G	GRCh38
NC_000003.11:g.129249738C>G , CM000665.1:g.129249738C>G	GRCh37
NC_000003.10:g.130732428C>G	NCBI36
NG_009115.1:g.7257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.381C>G MANE Select	ENSP00000296271.3:p.Ser127=
ENST00000296271.3:c.381C>G	ENSP00000296271.3:p.Ser127=
NM_000539.3:c.381C>G MANE Select	NP_000530.1:p.Ser127=