Canonical Allele Identifier: CA918307706
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1563738052
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643811del , CM000670.2:g.86643811del GRCh38
NC_000008.10:g.87656039del , CM000670.1:g.87656039del GRCh37
NC_000008.9:g.87725155del NCBI36
NG_016980.1:g.104867del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1120del MANE Select ENSP00000316605.5:p.Ala374LeufsTer22
ENST00000681546.1:n.940del
ENST00000681746.1:c.1120del ENSP00000505959.1:p.Ala374LeufsTer22
ENST00000320005.5:c.1120del ENSP00000316605.5:p.Ala374LeufsTer22
NM_019098.4:c.1120del NP_061971.3:p.Ala374LeufsTer22
XM_011517138.1:c.706del XP_011515440.1:p.Ala236LeufsTer22
XM_011517138.2:c.706del XP_011515440.1:p.Ala236LeufsTer22
NM_019098.5:c.1120del MANE Select NP_061971.3:p.Ala374LeufsTer22
Search 100 bp 5'
Search 100 bp 3'