Canonical Allele Identifier: CA1799783639
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575623A= , CM000670.2:g.86575623A= GRCh38
NC_000008.10:g.87587851A= , CM000670.1:g.87587851A= GRCh37
NC_000008.9:g.87656967A= NCBI36
NG_016980.1:g.173053T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*181T= MANE Select ENSP00000316605.5:n.*181T=
ENST00000681546.1:n.2431T=
ENST00000681746.1:c.*1022T= ENSP00000505959.1:n.*1022T=
ENST00000320005.5:c.*181T= ENSP00000316605.5:n.*181T=
ENST00000517327.5:c.276+3066T= ENSP00000428329.1:n.276+3066T=
NM_019098.4:c.*181T= NP_061971.3:n.*181T=
XM_011517138.1:c.*181T= XP_011515440.1:n.*181T=
XM_011517138.2:c.*181T= XP_011515440.1:n.*181T=
NM_019098.5:c.*181T= MANE Select NP_061971.3:n.*181T=