Canonical Allele Identifier: CA371445973
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 908711
ClinVar RCV Id: RCV001159337 RCV001159336 RCV002558410
dbSNP Id: rs1821645749
gnomAD v4: 8-86575811-T-G
MyVariant Identifiers: chr8:g.87588039T>G (hg19) chr8:g.86575811T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575811T>G , CM000670.2:g.86575811T>G GRCh38
NC_000008.10:g.87588039T>G , CM000670.1:g.87588039T>G GRCh37
NC_000008.9:g.87657155T>G NCBI36
NG_016980.1:g.172865A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2423A>C MANE Select ENSP00000316605.5:p.Lys808Thr
ENST00000681546.1:n.2243A>C
ENST00000681746.1:c.*834A>C ENSP00000505959.1:n.*834A>C
ENST00000320005.5:c.2423A>C ENSP00000316605.5:p.Lys808Thr
ENST00000517327.5:c.276+2878A>C ENSP00000428329.1:n.276+2878A>C
NM_019098.4:c.2423A>C NP_061971.3:p.Lys808Thr
XM_011517138.1:c.2009A>C XP_011515440.1:p.Lys670Thr
XM_011517138.2:c.2009A>C XP_011515440.1:p.Lys670Thr
NM_019098.5:c.2423A>C MANE Select NP_061971.3:p.Lys808Thr
Search 100 bp 5'
Search 100 bp 3'