Canonical Allele Identifier: CA16042497
Gene: RHO HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.129529092del
GRCh37 chr3:g.129247935del
gnomAD v4:
chr3-129529089-TG-T
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.00000853 (NFE)
ClinVar RCV:
RCV000414503
ClinVar Variation:
373094
dbSNP:
1057518210
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529092del , CM000665.2:g.129529092del GRCh38
NC_000003.11:g.129247935del , CM000665.1:g.129247935del GRCh37
NC_000003.10:g.130730625del NCBI36
NG_009115.1:g.5454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.359del MANE Select ENSP00000296271.3:p.Gly120AlafsTer24
ENST00000296271.3:c.359del ENSP00000296271.3:p.Gly120AlafsTer24
NM_000539.3:c.359del MANE Select NP_000530.1:p.Gly120AlafsTer24
Search 100 bp 5'
Search 100 bp 3'