Canonical Allele Identifier: CA351254
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86632879T>C
GRCh38 chr8:g.86632879_86632882delinsCAAC
GRCh37 chr8:g.87645107T>C
GRCh37 chr8:g.87645107_87645110delinsCAAC
Revel Score:
ENST00000320005 (MANE Select) 0.860
gnomAD v2:
8:87645107 T / C
gnomAD v3:
8:86632879 T / C
gnomAD v4:
chr8-86632879-T-C
Joint Max Group AF 0.00030312 (SAS)
Genomes Max Group AF 0.0001689 (SAS)
Exomes Max Group AF 0.00029013 (SAS)
ClinVar RCV:
RCV001041757
RCV001272485
ClinVar Variation:
242507
dbSNP:
564759960
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632879T>C , CM000670.2:g.86632879T>C GRCh38
NC_000008.10:g.87645107T>C , CM000670.1:g.87645107T>C GRCh37
NC_000008.9:g.87714223T>C NCBI36
NG_016980.1:g.115797A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1193A>G MANE Select ENSP00000316605.5:p.Tyr398Cys
ENST00000681546.1:n.1013A>G
ENST00000681746.1:c.1193A>G ENSP00000505959.1:p.Tyr398Cys
ENST00000320005.5:c.1193A>G ENSP00000316605.5:p.Tyr398Cys
NM_019098.4:c.1193A>G NP_061971.3:p.Tyr398Cys
XM_011517138.1:c.779A>G XP_011515440.1:p.Tyr260Cys
XM_011517138.2:c.779A>G XP_011515440.1:p.Tyr260Cys
NM_019098.5:c.1193A>G MANE Select NP_061971.3:p.Tyr398Cys
Search 100 bp 5'
Search 100 bp 3'