Canonical Allele Identifier: CA4800086
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427659
ClinVar RCV Id: RCV000497416 RCV001386013 RCV001834594
dbSNP Id: rs776896038
ExAC: 8:87645014 G / GA
gnomAD v2: 8-87645014-G-GA
gnomAD v3: 8-86632786-G-GA
gnomAD v4: 8-86632786-G-GA
MyVariant Identifiers: chr8:g.87645015dup (hg19) chr8:g.87645015_87645016insA (hg19) chr8:g.87645014_87645015insA (hg19) chr8:g.86632787dup (hg38) chr8:g.86632787_86632788insA (hg38) chr8:g.86632786_86632787insA (hg38)
PubMed: PMID:28795510
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1285dup MANE Select ENSP00000316605.5:p.Ser429PhefsTer?
ENST00000681546.1:n.1105dup
ENST00000681746.1:c.1285dup ENSP00000505959.1:p.Ser429PhefsTer?
ENST00000320005.5:c.1285dup ENSP00000316605.5:p.Ser429PhefsTer?
NM_019098.4:c.1285dup NP_061971.3:p.Ser429PhefsTer?
XM_011517138.1:c.871dup XP_011515440.1:p.Ser291PhefsTer?
XM_011517138.2:c.871dup XP_011515440.1:p.Ser291PhefsTer?
NM_019098.5:c.1285dup MANE Select NP_061971.3:p.Ser429PhefsTer?
Search 100 bp 5'
Search 100 bp 3'