Canonical Allele Identifier: CA16041192
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370933
dbSNP Id: rs1057516878

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86629034del , CM000670.2:g.86629034del GRCh38
NC_000008.10:g.87641262del , CM000670.1:g.87641262del GRCh37
NC_000008.9:g.87710378del NCBI36
NG_016980.1:g.119643del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1366del MANE Select ENSP00000316605.5:p.Arg456AlafsTer11
ENST00000681546.1:n.1186del
ENST00000681746.1:c.1366del ENSP00000505959.1:p.Arg456AlafsTer11
ENST00000320005.5:c.1366del ENSP00000316605.5:p.Arg456AlafsTer11
NM_019098.4:c.1366del NP_061971.3:p.Arg456AlafsTer11
XM_011517138.1:c.952del XP_011515440.1:p.Arg318AlafsTer11
XM_011517138.2:c.952del XP_011515440.1:p.Arg318AlafsTer11
NM_019098.5:c.1366del MANE Select NP_061971.3:p.Arg456AlafsTer11