Canonical Allele Identifier: CA4799887
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86579219A>C
GRCh37 chr8:g.87591447A>C
gnomAD v2:
8:87591447 A / C
gnomAD v3:
8:86579219 A / C
gnomAD v4:
chr8-86579219-A-C
Joint Max Group AF 0.0011206 (AFR)
Genomes Max Group AF 0.00102155 (AFR)
Exomes Max Group AF 0.00105764 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86579219A>C , CM000670.2:g.86579219A>C GRCh38
NC_000008.10:g.87591447A>C , CM000670.1:g.87591447A>C GRCh37
NC_000008.9:g.87660563A>C NCBI36
NG_016980.1:g.169457T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1815T>G MANE Select ENSP00000316605.5:p.Thr605=
ENST00000681546.1:n.1635T>G
ENST00000681746.1:c.*226T>G ENSP00000505959.1:n.*226T>G
ENST00000320005.5:c.1815T>G ENSP00000316605.5:p.Thr605=
NM_019098.4:c.1815T>G NP_061971.3:p.Thr605=
XM_011517138.1:c.1401T>G XP_011515440.1:p.Thr467=
XM_011517138.2:c.1401T>G XP_011515440.1:p.Thr467=
NM_019098.5:c.1815T>G MANE Select NP_061971.3:p.Thr605=
Search 100 bp 5'
Search 100 bp 3'