Canonical Allele Identifier: CA1799783574
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575575C= , CM000670.2:g.86575575C= GRCh38
NC_000008.10:g.87587803C= , CM000670.1:g.87587803C= GRCh37
NC_000008.9:g.87656919C= NCBI36
NG_016980.1:g.173101G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*229G= MANE Select ENSP00000316605.5:n.*229G=
ENST00000681546.1:n.2479G=
ENST00000681746.1:c.*1070G= ENSP00000505959.1:n.*1070G=
ENST00000320005.5:c.*229G= ENSP00000316605.5:n.*229G=
ENST00000517327.5:c.276+3114G= ENSP00000428329.1:n.276+3114G=
NM_019098.4:c.*229G= NP_061971.3:n.*229G=
XM_011517138.1:c.*229G= XP_011515440.1:n.*229G=
XM_011517138.2:c.*229G= XP_011515440.1:n.*229G=
NM_019098.5:c.*229G= MANE Select NP_061971.3:n.*229G=