Canonical Allele Identifier: CA1116237173
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v3: 8-86739613-C-T
gnomAD v4: 8-86739613-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739613C>T , CM000670.2:g.86739613C>T GRCh38
NC_000008.10:g.87751841C>T , CM000670.1:g.87751841C>T GRCh37
NC_000008.9:g.87820957C>T NCBI36
NG_016980.1:g.9063G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+42G>A MANE Select ENSP00000316605.5:n.211+42G>A
ENST00000681746.1:c.211+42G>A ENSP00000505959.1:n.211+42G>A
ENST00000320005.5:c.211+42G>A ENSP00000316605.5:n.211+42G>A
ENST00000519777.1:n.193+42G>A
NM_019098.4:c.211+42G>A NP_061971.3:n.211+42G>A
NM_019098.5:c.211+42G>A MANE Select NP_061971.3:n.211+42G>A
Search 100 bp 5'
Search 100 bp 3'