Canonical Allele Identifier: CA4800483
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1183444
ClinVar RCV Id: RCV001541288
dbSNP Id: rs78198409
ExAC: 8:87751848 G / GT
gnomAD v2: 8-87751848-G-GT
gnomAD v3: 8-86739620-G-GT
gnomAD v4: 8-86739620-G-GT
MyVariant Identifiers: chr8:g.87751851_87751852insT (hg19) chr8:g.87751848_87751849insT (hg19) chr8:g.86739623_86739624insT (hg38) chr8:g.86739620_86739621insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739638dup , CM000670.2:g.86739638dup GRCh38
NC_000008.10:g.87751866dup , CM000670.1:g.87751866dup GRCh37
NC_000008.9:g.87820982dup NCBI36
NG_016980.1:g.9055dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+34dup MANE Select ENSP00000316605.5:n.211+34dup
ENST00000681746.1:c.211+34dup ENSP00000505959.1:n.211+34dup
ENST00000320005.5:c.211+34dup ENSP00000316605.5:n.211+34dup
ENST00000519777.1:n.193+34dup
NM_019098.4:c.211+34dup NP_061971.3:n.211+34dup
NM_019098.5:c.211+34dup MANE Select NP_061971.3:n.211+34dup
Search 100 bp 5'
Search 100 bp 3'