Canonical Allele Identifier: CA371446145
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575896A>T , CM000670.2:g.86575896A>T GRCh38
NC_000008.10:g.87588124A>T , CM000670.1:g.87588124A>T GRCh37
NC_000008.9:g.87657240A>T NCBI36
NG_016980.1:g.172780T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2338T>A MANE Select ENSP00000316605.5:p.Ser780Thr
ENST00000681546.1:n.2158T>A
ENST00000681746.1:c.*749T>A ENSP00000505959.1:n.*749T>A
ENST00000320005.5:c.2338T>A ENSP00000316605.5:p.Ser780Thr
ENST00000517327.5:c.276+2793T>A ENSP00000428329.1:n.276+2793T>A
NM_019098.4:c.2338T>A NP_061971.3:p.Ser780Thr
XM_011517138.1:c.1924T>A XP_011515440.1:p.Ser642Thr
XM_011517138.2:c.1924T>A XP_011515440.1:p.Ser642Thr
NM_019098.5:c.2338T>A MANE Select NP_061971.3:p.Ser780Thr