Canonical Allele Identifier: CA371450180
Gene: CNGB3 HGNC NCBI

Linked Data

COSMIC: COSM751549

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671016G>T , CM000670.2:g.86671016G>T GRCh38
NC_000008.10:g.87683244G>T , CM000670.1:g.87683244G>T GRCh37
NC_000008.9:g.87752360G>T NCBI36
NG_016980.1:g.77660C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.421C>A MANE Select ENSP00000316605.5:p.Gln141Lys
ENST00000680314.1:n.182C>A
ENST00000681746.1:c.421C>A ENSP00000505959.1:p.Gln141Lys
ENST00000320005.5:c.421C>A ENSP00000316605.5:p.Gln141Lys
NM_019098.4:c.421C>A NP_061971.3:p.Gln141Lys
XM_011517138.1:c.7C>A XP_011515440.1:p.Gln3Lys
XM_011517138.2:c.7C>A XP_011515440.1:p.Gln3Lys
NM_019098.5:c.421C>A MANE Select NP_061971.3:p.Gln141Lys