Canonical Allele Identifier: CA371446725
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643765A>T , CM000670.2:g.86643765A>T GRCh38
NC_000008.10:g.87655993A>T , CM000670.1:g.87655993A>T GRCh37
NC_000008.9:g.87725109A>T NCBI36
NG_016980.1:g.104911T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1164T>A MANE Select ENSP00000316605.5:p.Asp388Glu
ENST00000681546.1:n.984T>A
ENST00000681746.1:c.1164T>A ENSP00000505959.1:p.Asp388Glu
ENST00000320005.5:c.1164T>A ENSP00000316605.5:p.Asp388Glu
NM_019098.4:c.1164T>A NP_061971.3:p.Asp388Glu
XM_011517138.1:c.750T>A XP_011515440.1:p.Asp250Glu
XM_011517138.2:c.750T>A XP_011515440.1:p.Asp250Glu
NM_019098.5:c.1164T>A MANE Select NP_061971.3:p.Asp388Glu