Canonical Allele Identifier: CA856342824
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1375711074
gnomAD v3: 8-86670746-TC-T
gnomAD v4: 8-86670746-TC-T
MyVariant Identifiers: chr8:g.87682975del (hg19) chr8:g.86670747del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670747del , CM000670.2:g.86670747del GRCh38
NC_000008.10:g.87682975del , CM000670.1:g.87682975del GRCh37
NC_000008.9:g.87752091del NCBI36
NG_016980.1:g.77929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+197del MANE Select ENSP00000316605.5:n.493+197del
ENST00000680314.1:n.254+197del
ENST00000681746.1:c.493+197del ENSP00000505959.1:n.493+197del
ENST00000320005.5:c.493+197del ENSP00000316605.5:n.493+197del
NM_019098.4:c.493+197del NP_061971.3:n.493+197del
XM_011517138.1:c.79+197del XP_011515440.1:n.79+197del
XM_011517138.2:c.79+197del XP_011515440.1:n.79+197del
NM_019098.5:c.493+197del MANE Select NP_061971.3:n.493+197del
Search 100 bp 5'
Search 100 bp 3'