Canonical Allele Identifier: CA4799732
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2052781
ClinVar RCV Id: RCV002937706
dbSNP Id: rs753199958
ExAC: 8:87588066 AG / A
gnomAD v2: 8-87588066-AG-A
gnomAD v3: 8-86575838-AG-A
gnomAD v4: 8-86575838-AG-A
MyVariant Identifiers: chr8:g.87588067del (hg19) chr8:g.86575839del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575839del , CM000670.2:g.86575839del GRCh38
NC_000008.10:g.87588067del , CM000670.1:g.87588067del GRCh37
NC_000008.9:g.87657183del NCBI36
NG_016980.1:g.172837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2395del MANE Select ENSP00000316605.5:p.Thr800LeufsTer29
ENST00000681546.1:n.2215del
ENST00000681746.1:c.*806del ENSP00000505959.1:n.*806del
ENST00000320005.5:c.2395del ENSP00000316605.5:p.Thr800LeufsTer29
ENST00000517327.5:c.276+2850del ENSP00000428329.1:n.276+2850del
NM_019098.4:c.2395del NP_061971.3:p.Thr800LeufsTer29
XM_011517138.1:c.1981del XP_011515440.1:p.Thr662LeufsTer29
XM_011517138.2:c.1981del XP_011515440.1:p.Thr662LeufsTer29
NM_019098.5:c.2395del MANE Select NP_061971.3:p.Thr800LeufsTer29
Search 100 bp 5'
Search 100 bp 3'