Canonical Allele Identifier: CA371446585
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576090T>C , CM000670.2:g.86576090T>C GRCh38
NC_000008.10:g.87588318T>C , CM000670.1:g.87588318T>C GRCh37
NC_000008.9:g.87657434T>C NCBI36
NG_016980.1:g.172586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2144A>G MANE Select ENSP00000316605.5:p.Glu715Gly
ENST00000681546.1:n.1964A>G
ENST00000681746.1:c.*555A>G ENSP00000505959.1:n.*555A>G
ENST00000320005.5:c.2144A>G ENSP00000316605.5:p.Glu715Gly
ENST00000517327.5:c.276+2599A>G ENSP00000428329.1:n.276+2599A>G
NM_019098.4:c.2144A>G NP_061971.3:p.Glu715Gly
XM_011517138.1:c.1730A>G XP_011515440.1:p.Glu577Gly
XM_011517138.2:c.1730A>G XP_011515440.1:p.Glu577Gly
NM_019098.5:c.2144A>G MANE Select NP_061971.3:p.Glu715Gly