Canonical Allele Identifier: CA856379542
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs111555715
gnomAD v4: 8-86739555-A-T
MyVariant Identifiers: chr8:g.87751783A>T (hg19) chr8:g.86739555A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739555A>T , CM000670.2:g.86739555A>T GRCh38
NC_000008.10:g.87751783A>T , CM000670.1:g.87751783A>T GRCh37
NC_000008.9:g.87820899A>T NCBI36
NG_016980.1:g.9121T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+100T>A MANE Select ENSP00000316605.5:n.211+100T>A
ENST00000681746.1:c.211+100T>A ENSP00000505959.1:n.211+100T>A
ENST00000320005.5:c.211+100T>A ENSP00000316605.5:n.211+100T>A
ENST00000519777.1:n.193+100T>A
NM_019098.4:c.211+100T>A NP_061971.3:n.211+100T>A
NM_019098.5:c.211+100T>A MANE Select NP_061971.3:n.211+100T>A
Search 100 bp 5'
Search 100 bp 3'