Canonical Allele Identifier: CA582921286
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1437516165
gnomAD v2: 8-87682805-C-CT
gnomAD v3: 8-86670577-C-CT
gnomAD v4: 8-86670577-C-CT
MyVariant Identifiers: chr8:g.87682805_87682806insT (hg19) chr8:g.86670577_86670578insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670585dup , CM000670.2:g.86670585dup GRCh38
NC_000008.10:g.87682813dup , CM000670.1:g.87682813dup GRCh37
NC_000008.9:g.87751929dup NCBI36
NG_016980.1:g.78098dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+366dup MANE Select ENSP00000316605.5:n.493+366dup
ENST00000680314.1:n.254+366dup
ENST00000681746.1:c.493+366dup ENSP00000505959.1:n.493+366dup
ENST00000320005.5:c.493+366dup ENSP00000316605.5:n.493+366dup
NM_019098.4:c.493+366dup NP_061971.3:n.493+366dup
XM_011517138.1:c.79+366dup XP_011515440.1:n.79+366dup
XM_011517138.2:c.79+366dup XP_011515440.1:n.79+366dup
NM_019098.5:c.493+366dup MANE Select NP_061971.3:n.493+366dup
Search 100 bp 5'
Search 100 bp 3'