Canonical Allele Identifier: CA1799829080
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670615T= , CM000670.2:g.86670615T= GRCh38
NC_000008.10:g.87682843T= , CM000670.1:g.87682843T= GRCh37
NC_000008.9:g.87751959T= NCBI36
NG_016980.1:g.78061A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+329A= MANE Select ENSP00000316605.5:n.493+329A=
ENST00000680314.1:n.254+329A=
ENST00000681746.1:c.493+329A= ENSP00000505959.1:n.493+329A=
ENST00000320005.5:c.493+329A= ENSP00000316605.5:n.493+329A=
NM_019098.4:c.493+329A= NP_061971.3:n.493+329A=
XM_011517138.1:c.79+329A= XP_011515440.1:n.79+329A=
XM_011517138.2:c.79+329A= XP_011515440.1:n.79+329A=
NM_019098.5:c.493+329A= MANE Select NP_061971.3:n.493+329A=