Canonical Allele Identifier: CA1799783677
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575674C= , CM000670.2:g.86575674C= GRCh38
NC_000008.10:g.87587902C= , CM000670.1:g.87587902C= GRCh37
NC_000008.9:g.87657018C= NCBI36
NG_016980.1:g.173002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*130G= MANE Select ENSP00000316605.5:n.*130G=
ENST00000681546.1:n.2380G=
ENST00000681746.1:c.*971G= ENSP00000505959.1:n.*971G=
ENST00000320005.5:c.*130G= ENSP00000316605.5:n.*130G=
ENST00000517327.5:c.276+3015G= ENSP00000428329.1:n.276+3015G=
NM_019098.4:c.*130G= NP_061971.3:n.*130G=
XM_011517138.1:c.*130G= XP_011515440.1:n.*130G=
XM_011517138.2:c.*130G= XP_011515440.1:n.*130G=
NM_019098.5:c.*130G= MANE Select NP_061971.3:n.*130G=