Canonical Allele Identifier: CA2607222
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 343280
ClinVar RCV Id: RCV000268586 RCV000316747 RCV001506266
dbSNP Id: rs113751838
ExAC: 3:129251187 C / T
gnomAD v2: 3-129251187-C-T
gnomAD v3: 3-129532344-C-T
gnomAD v4: 3-129532344-C-T
MyVariant Identifiers: chr3:g.129251187C>T (hg19) chr3:g.129532344C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532344C>T , CM000665.2:g.129532344C>T GRCh38
NC_000003.11:g.129251187C>T , CM000665.1:g.129251187C>T GRCh37
NC_000003.10:g.130733877C>T NCBI36
NG_009115.1:g.8706C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.624C>T MANE Select ENSP00000296271.3:p.Phe208=
ENST00000296271.3:c.624C>T ENSP00000296271.3:p.Phe208=
NM_000539.3:c.624C>T MANE Select NP_000530.1:p.Phe208=
Search 100 bp 5'
Search 100 bp 3'