Canonical Allele Identifier: CA582906365
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1337743707
gnomAD v2: 8-87588584-A-AT
gnomAD v3: 8-86576356-A-AT
gnomAD v4: 8-86576356-A-AT
MyVariant Identifiers: chr8:g.87588584_87588585insT (hg19) chr8:g.86576356_86576357insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576363dup , CM000670.2:g.86576363dup GRCh38
NC_000008.10:g.87588591dup , CM000670.1:g.87588591dup GRCh37
NC_000008.9:g.87657707dup NCBI36
NG_016980.1:g.172319dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2104-227dup MANE Select ENSP00000316605.5:n.2104-227dup
ENST00000681546.1:n.1924-227dup
ENST00000681746.1:c.*515-227dup ENSP00000505959.1:n.*515-227dup
ENST00000320005.5:c.2104-227dup ENSP00000316605.5:n.2104-227dup
ENST00000517327.5:c.276+2332dup ENSP00000428329.1:n.276+2332dup
NM_019098.4:c.2104-227dup NP_061971.3:n.2104-227dup
XM_011517138.1:c.1690-227dup XP_011515440.1:n.1690-227dup
XM_011517138.2:c.1690-227dup XP_011515440.1:n.1690-227dup
NM_019098.5:c.2104-227dup MANE Select NP_061971.3:n.2104-227dup
Search 100 bp 5'
Search 100 bp 3'