Canonical Allele Identifier: CA371446347
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575992C>T , CM000670.2:g.86575992C>T GRCh38
NC_000008.10:g.87588220C>T , CM000670.1:g.87588220C>T GRCh37
NC_000008.9:g.87657336C>T NCBI36
NG_016980.1:g.172684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2242G>A MANE Select ENSP00000316605.5:p.Glu748Lys
ENST00000681546.1:n.2062G>A
ENST00000681746.1:c.*653G>A ENSP00000505959.1:n.*653G>A
ENST00000320005.5:c.2242G>A ENSP00000316605.5:p.Glu748Lys
ENST00000517327.5:c.276+2697G>A ENSP00000428329.1:n.276+2697G>A
NM_019098.4:c.2242G>A NP_061971.3:p.Glu748Lys
XM_011517138.1:c.1828G>A XP_011515440.1:p.Glu610Lys
XM_011517138.2:c.1828G>A XP_011515440.1:p.Glu610Lys
NM_019098.5:c.2242G>A MANE Select NP_061971.3:p.Glu748Lys