Canonical Allele Identifier: CA546417825
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1142429
ClinVar RCV Id: RCV001480233
dbSNP Id: rs368352202
gnomAD v2: 3-129251268-C-G
gnomAD v3: 3-129532425-C-G
gnomAD v4: 3-129532425-C-G
MyVariant Identifiers: chr3:g.129251268C>G (hg19) chr3:g.129251268_129251269delinsGG (hg19) chr3:g.129532425C>G (hg38) chr3:g.129532425_129532426delinsGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532425C>G , CM000665.2:g.129532425C>G GRCh38
NC_000003.11:g.129251268C>G , CM000665.1:g.129251268C>G GRCh37
NC_000003.10:g.130733958C>G NCBI36
NG_009115.1:g.8787C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.696+9C>G MANE Select ENSP00000296271.3:n.696+9C>G
ENST00000296271.3:c.696+9C>G ENSP00000296271.3:n.696+9C>G
NM_000539.3:c.696+9C>G MANE Select NP_000530.1:n.696+9C>G
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