Canonical Allele Identifier: CA4800220
Gene: CNGB3 HGNC NCBI
COSMIC:
COSM74187
MyVariant.info:
GRCh38 chr8:g.86647878C>T
GRCh37 chr8:g.87660106C>T
Revel Score:
ENST00000320005 (MANE Select) 0.085
gnomAD v2:
8:87660106 C / T
gnomAD v3:
8:86647878 C / T
gnomAD v4:
chr8-86647878-C-T
Joint Max Group AF 0.00063568 (NFE)
Genomes Max Group AF 0.00076391 (NFE)
Exomes Max Group AF 0.00061739 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647878C>T , CM000670.2:g.86647878C>T GRCh38
NC_000008.10:g.87660106C>T , CM000670.1:g.87660106C>T GRCh37
NC_000008.9:g.87729222C>T NCBI36
NG_016980.1:g.100798G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.913G>A MANE Select ENSP00000316605.5:p.Ala305Thr
ENST00000681546.1:n.733G>A
ENST00000681746.1:c.913G>A ENSP00000505959.1:p.Ala305Thr
ENST00000320005.5:c.913G>A ENSP00000316605.5:p.Ala305Thr
NM_019098.4:c.913G>A NP_061971.3:p.Ala305Thr
XM_011517138.1:c.499G>A XP_011515440.1:p.Ala167Thr
XM_011517138.2:c.499G>A XP_011515440.1:p.Ala167Thr
NM_019098.5:c.913G>A MANE Select NP_061971.3:p.Ala305Thr
Search 100 bp 5'
Search 100 bp 3'