Canonical Allele Identifier: CA4799778
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966448
ClinVar RCV Id: RCV002716584
dbSNP Id: rs750503876
ExAC: 8:87588263 T / C
gnomAD v2: 8-87588263-T-C
gnomAD v4: 8-86576035-T-C
MyVariant Identifiers: chr8:g.87588263T>C (hg19) chr8:g.86576035T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576035T>C , CM000670.2:g.86576035T>C GRCh38
NC_000008.10:g.87588263T>C , CM000670.1:g.87588263T>C GRCh37
NC_000008.9:g.87657379T>C NCBI36
NG_016980.1:g.172641A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2199A>G MANE Select ENSP00000316605.5:p.Lys733=
ENST00000681546.1:n.2019A>G
ENST00000681746.1:c.*610A>G ENSP00000505959.1:n.*610A>G
ENST00000320005.5:c.2199A>G ENSP00000316605.5:p.Lys733=
ENST00000517327.5:c.276+2654A>G ENSP00000428329.1:n.276+2654A>G
NM_019098.4:c.2199A>G NP_061971.3:p.Lys733=
XM_011517138.1:c.1785A>G XP_011515440.1:p.Lys595=
XM_011517138.2:c.1785A>G XP_011515440.1:p.Lys595=
NM_019098.5:c.2199A>G MANE Select NP_061971.3:p.Lys733=
Search 100 bp 5'
Search 100 bp 3'