Canonical Allele Identifier: CA2687823529
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575672-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575672A>C , CM000670.2:g.86575672A>C GRCh38
NC_000008.10:g.87587900A>C , CM000670.1:g.87587900A>C GRCh37
NC_000008.9:g.87657016A>C NCBI36
NG_016980.1:g.173004T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*132T>G MANE Select ENSP00000316605.5:n.*132T>G
ENST00000681546.1:n.2382T>G
ENST00000681746.1:c.*973T>G ENSP00000505959.1:n.*973T>G
ENST00000320005.5:c.*132T>G ENSP00000316605.5:n.*132T>G
ENST00000517327.5:c.276+3017T>G ENSP00000428329.1:n.276+3017T>G
NM_019098.4:c.*132T>G NP_061971.3:n.*132T>G
XM_011517138.1:c.*132T>G XP_011515440.1:n.*132T>G
XM_011517138.2:c.*132T>G XP_011515440.1:n.*132T>G
NM_019098.5:c.*132T>G MANE Select NP_061971.3:n.*132T>G
Search 100 bp 5'
Search 100 bp 3'