Canonical Allele Identifier: CA2580078978
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2005067
ClinVar RCV Id: RCV002820745
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632800_86632819del , CM000670.2:g.86632800_86632819del GRCh38
NC_000008.10:g.87645028_87645047del , CM000670.1:g.87645028_87645047del GRCh37
NC_000008.9:g.87714144_87714163del NCBI36
NG_016980.1:g.115862_115881del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1258_1277del MANE Select ENSP00000316605.5:p.Ile420PhefsTer?
ENST00000681546.1:n.1078_1097del
ENST00000681746.1:c.1258_1277del ENSP00000505959.1:p.Ile420PhefsTer?
ENST00000320005.5:c.1258_1277del ENSP00000316605.5:p.Ile420PhefsTer?
NM_019098.4:c.1258_1277del NP_061971.3:p.Ile420PhefsTer?
XM_011517138.1:c.844_863del XP_011515440.1:p.Ile282PhefsTer?
XM_011517138.2:c.844_863del XP_011515440.1:p.Ile282PhefsTer?
NM_019098.5:c.1258_1277del MANE Select NP_061971.3:p.Ile420PhefsTer?
Search 100 bp 5'
Search 100 bp 3'