Canonical Allele Identifier: CA4800510
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs765623832
ExAC: 8:87751932 T / C
gnomAD v4: 8-86739704-T-C
MyVariant Identifiers: chr8:g.87751932T>C (hg19) chr8:g.86739704T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739704T>C , CM000670.2:g.86739704T>C GRCh38
NC_000008.10:g.87751932T>C , CM000670.1:g.87751932T>C GRCh37
NC_000008.9:g.87821048T>C NCBI36
NG_016980.1:g.8972A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.162A>G MANE Select ENSP00000316605.5:p.Lys54=
ENST00000681746.1:c.162A>G ENSP00000505959.1:p.Lys54=
ENST00000320005.5:c.162A>G ENSP00000316605.5:p.Lys54=
ENST00000519777.1:n.144A>G
NM_019098.4:c.162A>G NP_061971.3:p.Lys54=
NM_019098.5:c.162A>G MANE Select NP_061971.3:p.Lys54=
Search 100 bp 5'
Search 100 bp 3'