Canonical Allele Identifier: CA461813787
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427658
ClinVar RCV Id: RCV002523425
dbSNP Id: rs776896038
gnomAD v2: 8-87645014-GA-G
gnomAD v4: 8-86632786-GA-G
COSMIC: COSM1248546
MyVariant Identifiers: chr8:g.87645015del (hg19) chr8:g.86632787del (hg38)
PubMed: PMID:28041643 PMID:28795510
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632794del , CM000670.2:g.86632794del GRCh38
NC_000008.10:g.87645022del , CM000670.1:g.87645022del GRCh37
NC_000008.9:g.87714138del NCBI36
NG_016980.1:g.115889del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1285del MANE Select ENSP00000316605.5:p.Ser429LeufsTer9
ENST00000681546.1:n.1105del
ENST00000681746.1:c.1285del ENSP00000505959.1:p.Ser429LeufsTer9
ENST00000320005.5:c.1285del ENSP00000316605.5:p.Ser429LeufsTer9
NM_019098.4:c.1285del NP_061971.3:p.Ser429LeufsTer9
XM_011517138.1:c.871del XP_011515440.1:p.Ser291LeufsTer9
XM_011517138.2:c.871del XP_011515440.1:p.Ser291LeufsTer9
NM_019098.5:c.1285del MANE Select NP_061971.3:p.Ser429LeufsTer9
Search 100 bp 5'
Search 100 bp 3'