Canonical Allele Identifier: CA180366174
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs199810938
gnomAD v2: 8-87682817-T-TA
gnomAD v3: 8-86670589-T-TA
gnomAD v4: 8-86670589-T-TA
MyVariant Identifiers: chr8:g.87682817_87682818insA (hg19) chr8:g.86670589_86670590insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670597dup , CM000670.2:g.86670597dup GRCh38
NC_000008.10:g.87682825dup , CM000670.1:g.87682825dup GRCh37
NC_000008.9:g.87751941dup NCBI36
NG_016980.1:g.78086dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+354dup MANE Select ENSP00000316605.5:n.493+354dup
ENST00000680314.1:n.254+354dup
ENST00000681746.1:c.493+354dup ENSP00000505959.1:n.493+354dup
ENST00000320005.5:c.493+354dup ENSP00000316605.5:n.493+354dup
NM_019098.4:c.493+354dup NP_061971.3:n.493+354dup
XM_011517138.1:c.79+354dup XP_011515440.1:n.79+354dup
XM_011517138.2:c.79+354dup XP_011515440.1:n.79+354dup
NM_019098.5:c.493+354dup MANE Select NP_061971.3:n.493+354dup
Search 100 bp 5'
Search 100 bp 3'