Canonical Allele Identifier: CA371456747
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127289
ClinVar RCV Id: RCV003055425
gnomAD v4: 8-86739708-A-G
MyVariant Identifiers: chr8:g.87751936A>G (hg19) chr8:g.86739708A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739708A>G , CM000670.2:g.86739708A>G GRCh38
NC_000008.10:g.87751936A>G , CM000670.1:g.87751936A>G GRCh37
NC_000008.9:g.87821052A>G NCBI36
NG_016980.1:g.8968T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.158T>C MANE Select ENSP00000316605.5:p.Leu53Pro
ENST00000681746.1:c.158T>C ENSP00000505959.1:p.Leu53Pro
ENST00000320005.5:c.158T>C ENSP00000316605.5:p.Leu53Pro
ENST00000519777.1:n.140T>C
NM_019098.4:c.158T>C NP_061971.3:p.Leu53Pro
NM_019098.5:c.158T>C MANE Select NP_061971.3:p.Leu53Pro
Search 100 bp 5'
Search 100 bp 3'