Canonical Allele Identifier: CA856342787
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1389822417
gnomAD v3: 8-86670627-TG-T
gnomAD v4: 8-86670627-TG-T
MyVariant Identifiers: chr8:g.87682856del (hg19) chr8:g.86670628del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670629del , CM000670.2:g.86670629del GRCh38
NC_000008.10:g.87682857del , CM000670.1:g.87682857del GRCh37
NC_000008.9:g.87751973del NCBI36
NG_016980.1:g.78048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+316del MANE Select ENSP00000316605.5:n.493+316del
ENST00000680314.1:n.254+316del
ENST00000681746.1:c.493+316del ENSP00000505959.1:n.493+316del
ENST00000320005.5:c.493+316del ENSP00000316605.5:n.493+316del
NM_019098.4:c.493+316del NP_061971.3:n.493+316del
XM_011517138.1:c.79+316del XP_011515440.1:n.79+316del
XM_011517138.2:c.79+316del XP_011515440.1:n.79+316del
NM_019098.5:c.493+316del MANE Select NP_061971.3:n.493+316del
Search 100 bp 5'
Search 100 bp 3'