Canonical Allele Identifier: CA16041199
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370806
ClinVar RCV Id: RCV000409138
dbSNP Id: rs1057516782

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739706dup , CM000670.2:g.86739706dup GRCh38
NC_000008.10:g.87751934dup , CM000670.1:g.87751934dup GRCh37
NC_000008.9:g.87821050dup NCBI36
NG_016980.1:g.8973dup

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.163dup MANE Select ENSP00000316605.5:p.Thr55AsnfsTer9
ENST00000681746.1:c.163dup ENSP00000505959.1:p.Thr55AsnfsTer9
ENST00000320005.5:c.163dup ENSP00000316605.5:p.Thr55AsnfsTer9
ENST00000519777.1:n.145dup
NM_019098.4:c.163dup NP_061971.3:p.Thr55AsnfsTer9
NM_019098.5:c.163dup MANE Select NP_061971.3:p.Thr55AsnfsTer9