Canonical Allele Identifier: CA4800390
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481092
ClinVar RCV Id: RCV002022215
dbSNP Id: rs755714257
gnomAD v2: 8-87683186-G-A
gnomAD v3: 8-86670958-G-A
gnomAD v4: 8-86670958-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670958G>A , CM000670.2:g.86670958G>A GRCh38
NC_000008.10:g.87683186G>A , CM000670.1:g.87683186G>A GRCh37
NC_000008.9:g.87752302G>A NCBI36
NG_016980.1:g.77718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.479C>T MANE Select ENSP00000316605.5:p.Ala160Val
ENST00000680314.1:n.240C>T
ENST00000681746.1:c.479C>T ENSP00000505959.1:p.Ala160Val
ENST00000320005.5:c.479C>T ENSP00000316605.5:p.Ala160Val
NM_019098.4:c.479C>T NP_061971.3:p.Ala160Val
XM_011517138.1:c.65C>T XP_011515440.1:p.Ala22Val
XM_011517138.2:c.65C>T XP_011515440.1:p.Ala22Val
NM_019098.5:c.479C>T MANE Select NP_061971.3:p.Ala160Val