Canonical Allele Identifier: CA4800149
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 763182
ClinVar RCV Id: RCV000941399 RCV001272744
dbSNP Id: rs554368357
ExAC: 8:87656008 A / G
gnomAD v2: 8-87656008-A-G
gnomAD v3: 8-86643780-A-G
gnomAD v4: 8-86643780-A-G
MyVariant Identifiers: chr8:g.87656008A>G (hg19) chr8:g.87656008_87656009delinsGG (hg19) chr8:g.86643780A>G (hg38) chr8:g.86643780_86643781delinsGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643780A>G , CM000670.2:g.86643780A>G GRCh38
NC_000008.10:g.87656008A>G , CM000670.1:g.87656008A>G GRCh37
NC_000008.9:g.87725124A>G NCBI36
NG_016980.1:g.104896T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1149T>C MANE Select ENSP00000316605.5:p.Thr383=
ENST00000681546.1:n.969T>C
ENST00000681746.1:c.1149T>C ENSP00000505959.1:p.Thr383=
ENST00000320005.5:c.1149T>C ENSP00000316605.5:p.Thr383=
NM_019098.4:c.1149T>C NP_061971.3:p.Thr383=
XM_011517138.1:c.735T>C XP_011515440.1:p.Thr245=
XM_011517138.2:c.735T>C XP_011515440.1:p.Thr245=
NM_019098.5:c.1149T>C MANE Select NP_061971.3:p.Thr383=
Search 100 bp 5'
Search 100 bp 3'