Canonical Allele Identifier: CA371444517
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632880A>C , CM000670.2:g.86632880A>C GRCh38
NC_000008.10:g.87645108A>C , CM000670.1:g.87645108A>C GRCh37
NC_000008.9:g.87714224A>C NCBI36
NG_016980.1:g.115796T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1192T>G MANE Select ENSP00000316605.5:p.Tyr398Asp
ENST00000681546.1:n.1012T>G
ENST00000681746.1:c.1192T>G ENSP00000505959.1:p.Tyr398Asp
ENST00000320005.5:c.1192T>G ENSP00000316605.5:p.Tyr398Asp
NM_019098.4:c.1192T>G NP_061971.3:p.Tyr398Asp
XM_011517138.1:c.778T>G XP_011515440.1:p.Tyr260Asp
XM_011517138.2:c.778T>G XP_011515440.1:p.Tyr260Asp
NM_019098.5:c.1192T>G MANE Select NP_061971.3:p.Tyr398Asp