Canonical Allele Identifier: CA4799987
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86626030C>T
GRCh37 chr8:g.87638258C>T
Revel Score:
ENST00000320005 (MANE Select) 0.564
gnomAD v2:
8:87638258 C / T
gnomAD v3:
8:86626030 C / T
gnomAD v4:
chr8-86626030-C-T
Joint Max Group AF 0.00185597 (EAS)
Genomes Max Group AF 0.00076953 (EAS)
Exomes Max Group AF 0.00191322 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86626030C>T , CM000670.2:g.86626030C>T GRCh38
NC_000008.10:g.87638258C>T , CM000670.1:g.87638258C>T GRCh37
NC_000008.9:g.87707374C>T NCBI36
NG_016980.1:g.122646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1531G>A MANE Select ENSP00000316605.5:p.Ala511Thr
ENST00000681546.1:n.1351G>A
ENST00000681746.1:c.1531G>A ENSP00000505959.1:p.Ala511Thr
ENST00000320005.5:c.1531G>A ENSP00000316605.5:p.Ala511Thr
NM_019098.4:c.1531G>A NP_061971.3:p.Ala511Thr
XM_011517138.1:c.1117G>A XP_011515440.1:p.Ala373Thr
XR_928378.1:n.67-554C>T
XR_928379.1:n.75-554C>T
XM_011517138.2:c.1117G>A XP_011515440.1:p.Ala373Thr
NM_019098.5:c.1531G>A MANE Select NP_061971.3:p.Ala511Thr
Search 100 bp 5'
Search 100 bp 3'