Canonical Allele Identifier: CA371450132
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670994T>A , CM000670.2:g.86670994T>A GRCh38
NC_000008.10:g.87683222T>A , CM000670.1:g.87683222T>A GRCh37
NC_000008.9:g.87752338T>A NCBI36
NG_016980.1:g.77682A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.443A>T MANE Select ENSP00000316605.5:p.Lys148Ile
ENST00000680314.1:n.204A>T
ENST00000681746.1:c.443A>T ENSP00000505959.1:p.Lys148Ile
ENST00000320005.5:c.443A>T ENSP00000316605.5:p.Lys148Ile
NM_019098.4:c.443A>T NP_061971.3:p.Lys148Ile
XM_011517138.1:c.29A>T XP_011515440.1:p.Lys10Ile
XM_011517138.2:c.29A>T XP_011515440.1:p.Lys10Ile
NM_019098.5:c.443A>T MANE Select NP_061971.3:p.Lys148Ile