Canonical Allele Identifier: CA4800090
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427690
ClinVar RCV Id: RCV000498538 RCV000726742
dbSNP Id: rs372302139
ExAC: 8:87645045 C / A
gnomAD v2: 8-87645045-C-A
gnomAD v3: 8-86632817-C-A
gnomAD v4: 8-86632817-C-A
MyVariant Identifiers: chr8:g.87645045C>A (hg19) chr8:g.86632817C>A (hg38)
PubMed: PMID:23891399 PMID:28795510
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632817C>A , CM000670.2:g.86632817C>A GRCh38
NC_000008.10:g.87645045C>A , CM000670.1:g.87645045C>A GRCh37
NC_000008.9:g.87714161C>A NCBI36
NG_016980.1:g.115859G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1255G>T MANE Select ENSP00000316605.5:p.Glu419Ter
ENST00000681546.1:n.1075G>T
ENST00000681746.1:c.1255G>T ENSP00000505959.1:p.Glu419Ter
ENST00000320005.5:c.1255G>T ENSP00000316605.5:p.Glu419Ter
NM_019098.4:c.1255G>T NP_061971.3:p.Glu419Ter
XM_011517138.1:c.841G>T XP_011515440.1:p.Glu281Ter
XM_011517138.2:c.841G>T XP_011515440.1:p.Glu281Ter
NM_019098.5:c.1255G>T MANE Select NP_061971.3:p.Glu419Ter
Search 100 bp 5'
Search 100 bp 3'