Canonical Allele Identifier: CA1799781924
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574286A= , CM000670.2:g.86574286A= GRCh38
NC_000008.10:g.87586514A= , CM000670.1:g.87586514A= GRCh37
NC_000008.9:g.87655630A= NCBI36
NG_016980.1:g.174390T=

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1518T= MANE Select ENSP00000316605.5:n.*1518T=
ENST00000681546.1:n.3768T=
ENST00000681746.1:c.*2359T= ENSP00000505959.1:n.*2359T=
ENST00000320005.5:c.*1518T= ENSP00000316605.5:n.*1518T=
ENST00000517327.5:c.276+4403T= ENSP00000428329.1:n.276+4403T=
NM_019098.4:c.*1518T= NP_061971.3:n.*1518T=
XM_011517138.1:c.*1518T= XP_011515440.1:n.*1518T=
XM_011517138.2:c.*1518T= XP_011515440.1:n.*1518T=
NM_019098.5:c.*1518T= MANE Select NP_061971.3:n.*1518T=