Canonical Allele Identifier: CA371456735
Gene: CNGB3 HGNC NCBI

Linked Data

COSMIC: COSM751545

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739703T>A , CM000670.2:g.86739703T>A GRCh38
NC_000008.10:g.87751931T>A , CM000670.1:g.87751931T>A GRCh37
NC_000008.9:g.87821047T>A NCBI36
NG_016980.1:g.8973A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.163A>T MANE Select ENSP00000316605.5:p.Thr55Ser
ENST00000681746.1:c.163A>T ENSP00000505959.1:p.Thr55Ser
ENST00000320005.5:c.163A>T ENSP00000316605.5:p.Thr55Ser
ENST00000519777.1:n.145A>T
NM_019098.4:c.163A>T NP_061971.3:p.Thr55Ser
NM_019098.5:c.163A>T MANE Select NP_061971.3:p.Thr55Ser