Canonical Allele Identifier: CA915945753
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 817443
ClinVar RCV Id: RCV001008573
dbSNP Id: rs1585981462
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632827_86632828del , CM000670.2:g.86632827_86632828del GRCh38
NC_000008.10:g.87645055_87645056del , CM000670.1:g.87645055_87645056del GRCh37
NC_000008.9:g.87714171_87714172del NCBI36
NG_016980.1:g.115849_115850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1245_1246del MANE Select ENSP00000316605.5:p.Gln415HisfsTer4
ENST00000681546.1:n.1065_1066del
ENST00000681746.1:c.1245_1246del ENSP00000505959.1:p.Gln415HisfsTer4
ENST00000320005.5:c.1245_1246del ENSP00000316605.5:p.Gln415HisfsTer4
NM_019098.4:c.1245_1246del NP_061971.3:p.Gln415HisfsTer4
XM_011517138.1:c.831_832del XP_011515440.1:p.Gln277HisfsTer4
XM_011517138.2:c.831_832del XP_011515440.1:p.Gln277HisfsTer4
NM_019098.5:c.1245_1246del MANE Select NP_061971.3:p.Gln415HisfsTer4
Search 100 bp 5'
Search 100 bp 3'