Canonical Allele Identifier: CA371450102
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670981C>A , CM000670.2:g.86670981C>A GRCh38
NC_000008.10:g.87683209C>A , CM000670.1:g.87683209C>A GRCh37
NC_000008.9:g.87752325C>A NCBI36
NG_016980.1:g.77695G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.456G>T MANE Select ENSP00000316605.5:p.Glu152Asp
ENST00000680314.1:n.217G>T
ENST00000681746.1:c.456G>T ENSP00000505959.1:p.Glu152Asp
ENST00000320005.5:c.456G>T ENSP00000316605.5:p.Glu152Asp
NM_019098.4:c.456G>T NP_061971.3:p.Glu152Asp
XM_011517138.1:c.42G>T XP_011515440.1:p.Glu14Asp
XM_011517138.2:c.42G>T XP_011515440.1:p.Glu14Asp
NM_019098.5:c.456G>T MANE Select NP_061971.3:p.Glu152Asp