Canonical Allele Identifier: CA583027384
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1825305323
gnomAD v2: 8-87751847-AG-A
gnomAD v3: 8-86739619-AG-A
gnomAD v4: 8-86739619-AG-A
MyVariant Identifiers: chr8:g.87751848del (hg19) chr8:g.86739620del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739620del , CM000670.2:g.86739620del GRCh38
NC_000008.10:g.87751848del , CM000670.1:g.87751848del GRCh37
NC_000008.9:g.87820964del NCBI36
NG_016980.1:g.9056del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+35del MANE Select ENSP00000316605.5:n.211+35del
ENST00000681746.1:c.211+35del ENSP00000505959.1:n.211+35del
ENST00000320005.5:c.211+35del ENSP00000316605.5:n.211+35del
ENST00000519777.1:n.193+35del
NM_019098.4:c.211+35del NP_061971.3:n.211+35del
NM_019098.5:c.211+35del MANE Select NP_061971.3:n.211+35del
Search 100 bp 5'
Search 100 bp 3'