Canonical Allele Identifier: CA645372472
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427646
ClinVar RCV Id: RCV000498146
dbSNP Id: rs1554619292
gnomAD v4: 8-86739675-TC-T
MyVariant Identifiers: chr8:g.87751904del (hg19) chr8:g.86739676del (hg38)
PubMed: PMID:28795510
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739676del , CM000670.2:g.86739676del GRCh38
NC_000008.10:g.87751904del , CM000670.1:g.87751904del GRCh37
NC_000008.9:g.87821020del NCBI36
NG_016980.1:g.9000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.190del MANE Select ENSP00000316605.5:p.Glu64SerfsTer19
ENST00000681746.1:c.190del ENSP00000505959.1:p.Glu64SerfsTer19
ENST00000320005.5:c.190del ENSP00000316605.5:p.Glu64SerfsTer19
ENST00000519777.1:n.172del
NM_019098.4:c.190del NP_061971.3:p.Glu64SerfsTer19
NM_019098.5:c.190del MANE Select NP_061971.3:p.Glu64SerfsTer19
Search 100 bp 5'
Search 100 bp 3'