Canonical Allele Identifier: CA1799825862
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823240802
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643861del , CM000670.2:g.86643861del GRCh38
NC_000008.10:g.87656089del , CM000670.1:g.87656089del GRCh37
NC_000008.9:g.87725205del NCBI36
NG_016980.1:g.104816del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1069del MANE Select ENSP00000316605.5:p.Thr357LeufsTer?
ENST00000681546.1:n.889del
ENST00000681746.1:c.1069del ENSP00000505959.1:p.Thr357LeufsTer?
ENST00000320005.5:c.1069del ENSP00000316605.5:p.Thr357LeufsTer?
NM_019098.4:c.1069del NP_061971.3:p.Thr357LeufsTer?
XM_011517138.1:c.655del XP_011515440.1:p.Thr219LeufsTer?
XM_011517138.2:c.655del XP_011515440.1:p.Thr219LeufsTer?
NM_019098.5:c.1069del MANE Select NP_061971.3:p.Thr357LeufsTer?
Search 100 bp 5'
Search 100 bp 3'