Canonical Allele Identifier: CA180875629
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1487882
ClinVar RCV Id: RCV002008906
dbSNP Id: rs892102896
gnomAD v2: 8-87751902-C-A
gnomAD v4: 8-86739674-C-A
MyVariant Identifiers: chr8:g.87751902C>A (hg19) chr8:g.86739674C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739674C>A , CM000670.2:g.86739674C>A GRCh38
NC_000008.10:g.87751902C>A , CM000670.1:g.87751902C>A GRCh37
NC_000008.9:g.87821018C>A NCBI36
NG_016980.1:g.9002G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.192G>T MANE Select ENSP00000316605.5:p.Glu64Asp
ENST00000681746.1:c.192G>T ENSP00000505959.1:p.Glu64Asp
ENST00000320005.5:c.192G>T ENSP00000316605.5:p.Glu64Asp
ENST00000519777.1:n.174G>T
NM_019098.4:c.192G>T NP_061971.3:p.Glu64Asp
NM_019098.5:c.192G>T MANE Select NP_061971.3:p.Glu64Asp
Search 100 bp 5'
Search 100 bp 3'