Canonical Allele Identifier: CA371446230
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575937T>G , CM000670.2:g.86575937T>G GRCh38
NC_000008.10:g.87588165T>G , CM000670.1:g.87588165T>G GRCh37
NC_000008.9:g.87657281T>G NCBI36
NG_016980.1:g.172739A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2297A>C MANE Select ENSP00000316605.5:p.Glu766Ala
ENST00000681546.1:n.2117A>C
ENST00000681746.1:c.*708A>C ENSP00000505959.1:n.*708A>C
ENST00000320005.5:c.2297A>C ENSP00000316605.5:p.Glu766Ala
ENST00000517327.5:c.276+2752A>C ENSP00000428329.1:n.276+2752A>C
NM_019098.4:c.2297A>C NP_061971.3:p.Glu766Ala
XM_011517138.1:c.1883A>C XP_011515440.1:p.Glu628Ala
XM_011517138.2:c.1883A>C XP_011515440.1:p.Glu628Ala
NM_019098.5:c.2297A>C MANE Select NP_061971.3:p.Glu766Ala