Canonical Allele Identifier: CA16041189
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370539
ClinVar RCV Id: RCV001861370
dbSNP Id: rs1057516571
MyVariant Identifiers: chr8:g.87591354del (hg19) chr8:g.86579126del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86579127del , CM000670.2:g.86579127del GRCh38
NC_000008.10:g.87591355del , CM000670.1:g.87591355del GRCh37
NC_000008.9:g.87660471del NCBI36
NG_016980.1:g.169550del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1908del MANE Select ENSP00000316605.5:p.Ile637SerfsTer3
ENST00000681546.1:n.1728del
ENST00000681746.1:c.*319del ENSP00000505959.1:n.*319del
ENST00000320005.5:c.1908del ENSP00000316605.5:p.Ile637SerfsTer3
ENST00000517327.5:c.81del ENSP00000428329.1:p.Ile28SerfsTer3
NM_019098.4:c.1908del NP_061971.3:p.Ile637SerfsTer3
XM_011517138.1:c.1494del XP_011515440.1:p.Ile499SerfsTer3
XM_011517138.2:c.1494del XP_011515440.1:p.Ile499SerfsTer3
NM_019098.5:c.1908del MANE Select NP_061971.3:p.Ile637SerfsTer3
Search 100 bp 5'
Search 100 bp 3'