Canonical Allele Identifier: CA371446030
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575839G>A , CM000670.2:g.86575839G>A GRCh38
NC_000008.10:g.87588067G>A , CM000670.1:g.87588067G>A GRCh37
NC_000008.9:g.87657183G>A NCBI36
NG_016980.1:g.172837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2395C>T MANE Select ENSP00000316605.5:p.Leu799Phe
ENST00000681546.1:n.2215C>T
ENST00000681746.1:c.*806C>T ENSP00000505959.1:n.*806C>T
ENST00000320005.5:c.2395C>T ENSP00000316605.5:p.Leu799Phe
ENST00000517327.5:c.276+2850C>T ENSP00000428329.1:n.276+2850C>T
NM_019098.4:c.2395C>T NP_061971.3:p.Leu799Phe
XM_011517138.1:c.1981C>T XP_011515440.1:p.Leu661Phe
XM_011517138.2:c.1981C>T XP_011515440.1:p.Leu661Phe
NM_019098.5:c.2395C>T MANE Select NP_061971.3:p.Leu799Phe