Canonical Allele Identifier: CA645372853
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427668
ClinVar RCV Id: RCV000498194
dbSNP Id: rs1554604525
MyVariant Identifiers: chr8:g.87588103del (hg19) chr8:g.86575875del (hg38)
PubMed: PMID:28795510
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575875del , CM000670.2:g.86575875del GRCh38
NC_000008.10:g.87588103del , CM000670.1:g.87588103del GRCh37
NC_000008.9:g.87657219del NCBI36
NG_016980.1:g.172801del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.2359del MANE Select ENSP00000316605.5:p.Ser787AlafsTer?
ENST00000681546.1:n.2179del
ENST00000681746.1:c.*770del ENSP00000505959.1:n.*770del
ENST00000320005.5:c.2359del ENSP00000316605.5:p.Ser787AlafsTer?
ENST00000517327.5:c.276+2814del ENSP00000428329.1:n.276+2814del
NM_019098.4:c.2359del NP_061971.3:p.Ser787AlafsTer?
XM_011517138.1:c.1945del XP_011515440.1:p.Ser649AlafsTer?
XM_011517138.2:c.1945del XP_011515440.1:p.Ser649AlafsTer?
NM_019098.5:c.2359del MANE Select NP_061971.3:p.Ser787AlafsTer?
Search 100 bp 5'
Search 100 bp 3'