Canonical Allele Identifier: CA1799783471
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575497T= , CM000670.2:g.86575497T= GRCh38
NC_000008.10:g.87587725T= , CM000670.1:g.87587725T= GRCh37
NC_000008.9:g.87656841T= NCBI36
NG_016980.1:g.173179A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*307A= MANE Select ENSP00000316605.5:n.*307A=
ENST00000681546.1:n.2557A=
ENST00000681746.1:c.*1148A= ENSP00000505959.1:n.*1148A=
ENST00000320005.5:c.*307A= ENSP00000316605.5:n.*307A=
ENST00000517327.5:c.276+3192A= ENSP00000428329.1:n.276+3192A=
NM_019098.4:c.*307A= NP_061971.3:n.*307A=
XM_011517138.1:c.*307A= XP_011515440.1:n.*307A=
XM_011517138.2:c.*307A= XP_011515440.1:n.*307A=
NM_019098.5:c.*307A= MANE Select NP_061971.3:n.*307A=