Canonical Allele Identifier: CA371456788
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739726T>G , CM000670.2:g.86739726T>G GRCh38
NC_000008.10:g.87751954T>G , CM000670.1:g.87751954T>G GRCh37
NC_000008.9:g.87821070T>G NCBI36
NG_016980.1:g.8950A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.140A>C MANE Select ENSP00000316605.5:p.Lys47Thr
ENST00000681746.1:c.140A>C ENSP00000505959.1:p.Lys47Thr
ENST00000320005.5:c.140A>C ENSP00000316605.5:p.Lys47Thr
ENST00000519777.1:n.122A>C
NM_019098.4:c.140A>C NP_061971.3:p.Lys47Thr
NM_019098.5:c.140A>C MANE Select NP_061971.3:p.Lys47Thr