Canonical Allele Identifier: CA371446067
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575856T>A , CM000670.2:g.86575856T>A GRCh38
NC_000008.10:g.87588084T>A , CM000670.1:g.87588084T>A GRCh37
NC_000008.9:g.87657200T>A NCBI36
NG_016980.1:g.172820A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2378A>T MANE Select ENSP00000316605.5:p.Glu793Val
ENST00000681546.1:n.2198A>T
ENST00000681746.1:c.*789A>T ENSP00000505959.1:n.*789A>T
ENST00000320005.5:c.2378A>T ENSP00000316605.5:p.Glu793Val
ENST00000517327.5:c.276+2833A>T ENSP00000428329.1:n.276+2833A>T
NM_019098.4:c.2378A>T NP_061971.3:p.Glu793Val
XM_011517138.1:c.1964A>T XP_011515440.1:p.Glu655Val
XM_011517138.2:c.1964A>T XP_011515440.1:p.Glu655Val
NM_019098.5:c.2378A>T MANE Select NP_061971.3:p.Glu793Val