Canonical Allele Identifier: CA4800479
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1554619282
ExAC: 8:87751847 A / AG
gnomAD v2: 8-87751847-A-AG
gnomAD v4: 8-86739619-A-AG
MyVariant Identifiers: chr8:g.87751848_87751849insG (hg19) chr8:g.87751847_87751848insG (hg19) chr8:g.86739620_86739621insG (hg38) chr8:g.86739619_86739620insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739620dup , CM000670.2:g.86739620dup GRCh38
NC_000008.10:g.87751848dup , CM000670.1:g.87751848dup GRCh37
NC_000008.9:g.87820964dup NCBI36
NG_016980.1:g.9056dup

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+35dup MANE Select ENSP00000316605.5:n.211+35dup
ENST00000681746.1:c.211+35dup ENSP00000505959.1:n.211+35dup
ENST00000320005.5:c.211+35dup ENSP00000316605.5:n.211+35dup
ENST00000519777.1:n.193+35dup
NM_019098.4:c.211+35dup NP_061971.3:n.211+35dup
NM_019098.5:c.211+35dup MANE Select NP_061971.3:n.211+35dup
Search 100 bp 5'
Search 100 bp 3'