Canonical Allele Identifier: CA582916683
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1288450465
gnomAD v2: 8-87655763-G-GT
gnomAD v3: 8-86643535-G-GT
gnomAD v4: 8-86643535-G-GT
MyVariant Identifiers: chr8:g.87655763_87655764insT (hg19) chr8:g.86643535_86643536insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643539dup , CM000670.2:g.86643539dup GRCh38
NC_000008.10:g.87655767dup , CM000670.1:g.87655767dup GRCh37
NC_000008.9:g.87724883dup NCBI36
NG_016980.1:g.105140dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+215dup MANE Select ENSP00000316605.5:n.1178+215dup
ENST00000681546.1:n.998+215dup
ENST00000681746.1:c.1178+215dup ENSP00000505959.1:n.1178+215dup
ENST00000320005.5:c.1178+215dup ENSP00000316605.5:n.1178+215dup
NM_019098.4:c.1178+215dup NP_061971.3:n.1178+215dup
XM_011517138.1:c.764+215dup XP_011515440.1:n.764+215dup
XM_011517138.2:c.764+215dup XP_011515440.1:n.764+215dup
NM_019098.5:c.1178+215dup MANE Select NP_061971.3:n.1178+215dup
Search 100 bp 5'
Search 100 bp 3'