Canonical Allele Identifier: CA16041196
Gene: CNGB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371158
ClinVar RCV Id: RCV000409215
dbSNP Id: rs1057517053

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668104_86668107del , CM000670.2:g.86668104_86668107del GRCh38
NC_000008.9:g.87749448_87749451del NCBI36
NC_000008.10:g.87680332_87680335del , CM000670.1:g.87680332_87680335del GRCh37
NG_016980.1:g.80570_80573del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.5:c.556_559del ENSP00000316605.5:p.Arg186CysfsTer11
NM_019098.4:c.556_559del NP_061971.3:p.Arg186CysfsTer11
XM_011517138.1:c.142_145del XP_011515440.1:p.Arg48CysfsTer11