Canonical Allele Identifier: CA371446719
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2174617
ClinVar RCV Id: RCV002598944
dbSNP Id: rs1206997596
gnomAD v3: 8-86643763-C-T
gnomAD v4: 8-86643763-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643763C>T , CM000670.2:g.86643763C>T GRCh38
NC_000008.10:g.87655991C>T , CM000670.1:g.87655991C>T GRCh37
NC_000008.9:g.87725107C>T NCBI36
NG_016980.1:g.104913G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1166G>A MANE Select ENSP00000316605.5:p.Gly389Glu
ENST00000681546.1:n.986G>A
ENST00000681746.1:c.1166G>A ENSP00000505959.1:p.Gly389Glu
ENST00000320005.5:c.1166G>A ENSP00000316605.5:p.Gly389Glu
NM_019098.4:c.1166G>A NP_061971.3:p.Gly389Glu
XM_011517138.1:c.752G>A XP_011515440.1:p.Gly251Glu
XM_011517138.2:c.752G>A XP_011515440.1:p.Gly251Glu
NM_019098.5:c.1166G>A MANE Select NP_061971.3:p.Gly389Glu