Canonical Allele Identifier: CA371446838
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643817T>C , CM000670.2:g.86643817T>C GRCh38
NC_000008.10:g.87656045T>C , CM000670.1:g.87656045T>C GRCh37
NC_000008.9:g.87725161T>C NCBI36
NG_016980.1:g.104859A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1112A>G MANE Select ENSP00000316605.5:p.Tyr371Cys
ENST00000681546.1:n.932A>G
ENST00000681746.1:c.1112A>G ENSP00000505959.1:p.Tyr371Cys
ENST00000320005.5:c.1112A>G ENSP00000316605.5:p.Tyr371Cys
NM_019098.4:c.1112A>G NP_061971.3:p.Tyr371Cys
XM_011517138.1:c.698A>G XP_011515440.1:p.Tyr233Cys
XM_011517138.2:c.698A>G XP_011515440.1:p.Tyr233Cys
NM_019098.5:c.1112A>G MANE Select NP_061971.3:p.Tyr371Cys