Canonical Allele Identifier: CA232853
Gene: CNGB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143154
dbSNP Id: rs147876778

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632864C>T , CM000670.2:g.86632864C>T GRCh38
NC_000008.10:g.87645092C>T , CM000670.1:g.87645092C>T GRCh37
NC_000008.9:g.87714208C>T NCBI36
NG_016980.1:g.115812G>A

Transcript Alleles

HGVS Amino-acid change
NM_019098.4:c.1208G>A VV NP_061971.3:p.Arg403Gln
XM_011517138.1:c.794G>A XP_011515440.1:p.Arg265Gln
XM_011517138.2:c.794G>A
ENST00000320005.5:c.1208G>A ENSP00000316605.5:p.Arg403Gln