Canonical Allele Identifier: CA2687827833
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739540-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739540G>T , CM000670.2:g.86739540G>T GRCh38
NC_000008.10:g.87751768G>T , CM000670.1:g.87751768G>T GRCh37
NC_000008.9:g.87820884G>T NCBI36
NG_016980.1:g.9136C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+115C>A MANE Select ENSP00000316605.5:n.211+115C>A
ENST00000681746.1:c.211+115C>A ENSP00000505959.1:n.211+115C>A
ENST00000320005.5:c.211+115C>A ENSP00000316605.5:n.211+115C>A
ENST00000519777.1:n.193+115C>A
NM_019098.4:c.211+115C>A NP_061971.3:n.211+115C>A
NM_019098.5:c.211+115C>A MANE Select NP_061971.3:n.211+115C>A
Search 100 bp 5'
Search 100 bp 3'