Canonical Allele Identifier: CA583366119
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1401244
ClinVar RCV Id: RCV001911708
dbSNP Id: rs1302125467
gnomAD v2: 8-87588277-CT-C
gnomAD v4: 8-86576049-CT-C
MyVariant Identifiers: chr8:g.87588278del (hg19) chr8:g.86576050del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576054del , CM000670.2:g.86576054del GRCh38
NC_000008.10:g.87588282del , CM000670.1:g.87588282del GRCh37
NC_000008.9:g.87657398del NCBI36
NG_016980.1:g.172626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2184del MANE Select ENSP00000316605.5:p.Glu729LysfsTer?
ENST00000681546.1:n.2004del
ENST00000681746.1:c.*595del ENSP00000505959.1:n.*595del
ENST00000320005.5:c.2184del ENSP00000316605.5:p.Glu729LysfsTer?
ENST00000517327.5:c.276+2639del ENSP00000428329.1:n.276+2639del
NM_019098.4:c.2184del NP_061971.3:p.Glu729LysfsTer?
XM_011517138.1:c.1770del XP_011515440.1:p.Glu591LysfsTer?
XM_011517138.2:c.1770del XP_011515440.1:p.Glu591LysfsTer?
NM_019098.5:c.2184del MANE Select NP_061971.3:p.Glu729LysfsTer?
Search 100 bp 5'
Search 100 bp 3'