Canonical Allele Identifier: CA371456671
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739669T>G , CM000670.2:g.86739669T>G GRCh38
NC_000008.10:g.87751897T>G , CM000670.1:g.87751897T>G GRCh37
NC_000008.9:g.87821013T>G NCBI36
NG_016980.1:g.9007A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.197A>C MANE Select ENSP00000316605.5:p.His66Pro
ENST00000681746.1:c.197A>C ENSP00000505959.1:p.His66Pro
ENST00000320005.5:c.197A>C ENSP00000316605.5:p.His66Pro
ENST00000519777.1:n.179A>C
NM_019098.4:c.197A>C NP_061971.3:p.His66Pro
NM_019098.5:c.197A>C MANE Select NP_061971.3:p.His66Pro