Canonical Allele Identifier: CA371446117
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575880-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575880A>G , CM000670.2:g.86575880A>G GRCh38
NC_000008.10:g.87588108A>G , CM000670.1:g.87588108A>G GRCh37
NC_000008.9:g.87657224A>G NCBI36
NG_016980.1:g.172796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2354T>C MANE Select ENSP00000316605.5:p.Ile785Thr
ENST00000681546.1:n.2174T>C
ENST00000681746.1:c.*765T>C ENSP00000505959.1:n.*765T>C
ENST00000320005.5:c.2354T>C ENSP00000316605.5:p.Ile785Thr
ENST00000517327.5:c.276+2809T>C ENSP00000428329.1:n.276+2809T>C
NM_019098.4:c.2354T>C NP_061971.3:p.Ile785Thr
XM_011517138.1:c.1940T>C XP_011515440.1:p.Ile647Thr
XM_011517138.2:c.1940T>C XP_011515440.1:p.Ile647Thr
NM_019098.5:c.2354T>C MANE Select NP_061971.3:p.Ile785Thr