Canonical Allele Identifier: CA2607310
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1049601
ClinVar RCV Id: RCV001355933
dbSNP Id: rs771322615
ExAC: 3:129251598 A / T
gnomAD v2: 3-129251598-A-T
gnomAD v3: 3-129532755-A-T
gnomAD v4: 3-129532755-A-T
MyVariant Identifiers: chr3:g.129251598A>T (hg19) chr3:g.129532755A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532755A>T , CM000665.2:g.129532755A>T GRCh38
NC_000003.11:g.129251598A>T , CM000665.1:g.129251598A>T GRCh37
NC_000003.10:g.130734288A>T NCBI36
NG_009115.1:g.9117A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.919A>T MANE Select ENSP00000296271.3:p.Ile307Phe
ENST00000296271.3:c.919A>T ENSP00000296271.3:p.Ile307Phe
NM_000539.3:c.919A>T MANE Select NP_000530.1:p.Ile307Phe
Search 100 bp 5'
Search 100 bp 3'