Canonical Allele Identifier: CA4800222
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2188982
ClinVar RCV Id: RCV002607011
dbSNP Id: rs528004507
ExAC: 8:87660113 C / T
gnomAD v2: 8-87660113-C-T
gnomAD v4: 8-86647885-C-T
MyVariant Identifiers: chr8:g.87660113C>T (hg19) chr8:g.86647885C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647885C>T , CM000670.2:g.86647885C>T GRCh38
NC_000008.10:g.87660113C>T , CM000670.1:g.87660113C>T GRCh37
NC_000008.9:g.87729229C>T NCBI36
NG_016980.1:g.100791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.906G>A MANE Select ENSP00000316605.5:p.Leu302=
ENST00000681546.1:n.726G>A
ENST00000681746.1:c.906G>A ENSP00000505959.1:p.Leu302=
ENST00000320005.5:c.906G>A ENSP00000316605.5:p.Leu302=
NM_019098.4:c.906G>A NP_061971.3:p.Leu302=
XM_011517138.1:c.492G>A XP_011515440.1:p.Leu164=
XM_011517138.2:c.492G>A XP_011515440.1:p.Leu164=
NM_019098.5:c.906G>A MANE Select NP_061971.3:p.Leu302=
Search 100 bp 5'
Search 100 bp 3'