Canonical Allele Identifier: CA16041195
Gene: CNGB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371157
ClinVar RCV Id: RCV000411187
dbSNP Id: rs1057517052

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668096del , CM000670.2:g.86668096del GRCh38
NC_000008.10:g.87680324del , CM000670.1:g.87680324del GRCh37
NC_000008.9:g.87749440del NCBI36
NG_016980.1:g.80581del

Transcript Alleles

HGVS Amino-acid change
NM_019098.4:c.567del VV NP_061971.3:p.Trp189CysfsTer9
XM_011517138.1:c.153del XP_011515440.1:p.Trp51CysfsTer9
XM_011517138.2:c.153del
ENST00000320005.5:c.567del ENSP00000316605.5:p.Trp189CysfsTer9