Canonical Allele Identifier: CA1799783535
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575537G= , CM000670.2:g.86575537G= GRCh38
NC_000008.10:g.87587765G= , CM000670.1:g.87587765G= GRCh37
NC_000008.9:g.87656881G= NCBI36
NG_016980.1:g.173139C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*267C= MANE Select ENSP00000316605.5:n.*267C=
ENST00000681546.1:n.2517C=
ENST00000681746.1:c.*1108C= ENSP00000505959.1:n.*1108C=
ENST00000320005.5:c.*267C= ENSP00000316605.5:n.*267C=
ENST00000517327.5:c.276+3152C= ENSP00000428329.1:n.276+3152C=
NM_019098.4:c.*267C= NP_061971.3:n.*267C=
XM_011517138.1:c.*267C= XP_011515440.1:n.*267C=
XM_011517138.2:c.*267C= XP_011515440.1:n.*267C=
NM_019098.5:c.*267C= MANE Select NP_061971.3:n.*267C=