Canonical Allele Identifier: CA1799828978
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670568A= , CM000670.2:g.86670568A= GRCh38
NC_000008.10:g.87682796A= , CM000670.1:g.87682796A= GRCh37
NC_000008.9:g.87751912A= NCBI36
NG_016980.1:g.78108T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+376T= MANE Select ENSP00000316605.5:n.493+376T=
ENST00000680314.1:n.254+376T=
ENST00000681746.1:c.493+376T= ENSP00000505959.1:n.493+376T=
ENST00000320005.5:c.493+376T= ENSP00000316605.5:n.493+376T=
NM_019098.4:c.493+376T= NP_061971.3:n.493+376T=
XM_011517138.1:c.79+376T= XP_011515440.1:n.79+376T=
XM_011517138.2:c.79+376T= XP_011515440.1:n.79+376T=
NM_019098.5:c.493+376T= MANE Select NP_061971.3:n.493+376T=