Canonical Allele Identifier: CA2607257
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1551231
ClinVar RCV Id: RCV002192252
dbSNP Id: rs373118114
ExAC: 3:129251279 C / T
gnomAD v2: 3-129251279-C-T
gnomAD v3: 3-129532436-C-T
gnomAD v4: 3-129532436-C-T
MyVariant Identifiers: chr3:g.129251279C>T (hg19) chr3:g.129532436C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532436C>T , CM000665.2:g.129532436C>T GRCh38
NC_000003.11:g.129251279C>T , CM000665.1:g.129251279C>T GRCh37
NC_000003.10:g.130733969C>T NCBI36
NG_009115.1:g.8798C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.696+20C>T MANE Select ENSP00000296271.3:n.696+20C>T
ENST00000296271.3:c.696+20C>T ENSP00000296271.3:n.696+20C>T
NM_000539.3:c.696+20C>T MANE Select NP_000530.1:n.696+20C>T
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