Canonical Allele Identifier: CA354498130
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1488964
ClinVar RCV Id: RCV001980392
dbSNP Id: rs2084775122
gnomAD v4: 3-129530933-G-C
MyVariant Identifiers: chr3:g.129249776G>C (hg19) chr3:g.129530933G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530933G>C , CM000665.2:g.129530933G>C GRCh38
NC_000003.11:g.129249776G>C , CM000665.1:g.129249776G>C GRCh37
NC_000003.10:g.130732466G>C NCBI36
NG_009115.1:g.7295G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.419G>C MANE Select ENSP00000296271.3:p.Cys140Ser
ENST00000296271.3:c.419G>C ENSP00000296271.3:p.Cys140Ser
NM_000539.3:c.419G>C MANE Select NP_000530.1:p.Cys140Ser
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