Canonical Allele Identifier: CA2607247
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 735910
ClinVar RCV Id: RCV000911506 RCV003923162
dbSNP Id: rs368352202
ExAC: 3:129251268 C / T
gnomAD v2: 3-129251268-C-T
gnomAD v3: 3-129532425-C-T
gnomAD v4: 3-129532425-C-T
MyVariant Identifiers: chr3:g.129251268C>T (hg19) chr3:g.129251268_129251269delinsTG (hg19) chr3:g.129532425C>T (hg38) chr3:g.129532425_129532426delinsTG (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.696+9C>T MANE Select ENSP00000296271.3:n.696+9C>T
ENST00000296271.3:c.696+9C>T ENSP00000296271.3:n.696+9C>T
NM_000539.3:c.696+9C>T MANE Select NP_000530.1:n.696+9C>T
Search 100 bp 5'
Search 100 bp 3'