Canonical Allele Identifier: CA583366117
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024427
ClinVar RCV Id: RCV002863311
dbSNP Id: rs1183472770
gnomAD v2: 8-87588240-TCTTTATCTTCATTTTCTTTTC-T
gnomAD v3: 8-86576012-TCTTTATCTTCATTTTCTTTTC-T
gnomAD v4: 8-86576012-TCTTTATCTTCATTTTCTTTTC-T
MyVariant Identifiers: chr8:g.87588241_87588261del (hg19) chr8:g.86576013_86576033del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576033_86576053del , CM000670.2:g.86576033_86576053del GRCh38
NC_000008.10:g.87588261_87588281del , CM000670.1:g.87588261_87588281del GRCh37
NC_000008.9:g.87657377_87657397del NCBI36
NG_016980.1:g.172643_172663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2201_2221del MANE Select ENSP00000316605.5:p.Gly734_Lys740del
ENST00000681546.1:n.2021_2041del
ENST00000681746.1:c.*612_*632del ENSP00000505959.1:n.*612_*632del
ENST00000320005.5:c.2201_2221del ENSP00000316605.5:p.Gly734_Lys740del
ENST00000517327.5:c.276+2656_276+2676del ENSP00000428329.1:n.276+2656_276+2676del
NM_019098.4:c.2201_2221del NP_061971.3:p.Gly734_Lys740del
XM_011517138.1:c.1787_1807del XP_011515440.1:p.Gly596_Lys602del
XM_011517138.2:c.1787_1807del XP_011515440.1:p.Gly596_Lys602del
NM_019098.5:c.2201_2221del MANE Select NP_061971.3:p.Gly734_Lys740del
Search 100 bp 5'
Search 100 bp 3'