Canonical Allele Identifier: CA4800336
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86668038G>A
GRCh37 chr8:g.87680266G>A
gnomAD v2:
8:87680266 G / A
gnomAD v3:
8:86668038 G / A
gnomAD v4:
chr8-86668038-G-A
Joint Max Group AF 0.00016043 (NFE)
Genomes Max Group AF 0.00017086 (NFE)
Exomes Max Group AF 0.00015496 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668038G>A , CM000670.2:g.86668038G>A GRCh38
NC_000008.10:g.87680266G>A , CM000670.1:g.87680266G>A GRCh37
NC_000008.9:g.87749382G>A NCBI36
NG_016980.1:g.80638C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.624C>T MANE Select ENSP00000316605.5:p.Asn208=
ENST00000681746.1:c.624C>T ENSP00000505959.1:p.Asn208=
ENST00000320005.5:c.624C>T ENSP00000316605.5:p.Asn208=
NM_019098.4:c.624C>T NP_061971.3:p.Asn208=
XM_011517138.1:c.210C>T XP_011515440.1:p.Asn70=
XM_011517138.2:c.210C>T XP_011515440.1:p.Asn70=
NM_019098.5:c.624C>T MANE Select NP_061971.3:p.Asn208=
Search 100 bp 5'
Search 100 bp 3'