Canonical Allele Identifier: CA371446271
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575957A>C , CM000670.2:g.86575957A>C GRCh38
NC_000008.10:g.87588185A>C , CM000670.1:g.87588185A>C GRCh37
NC_000008.9:g.87657301A>C NCBI36
NG_016980.1:g.172719T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2277T>G MANE Select ENSP00000316605.5:p.Ser759Arg
ENST00000681546.1:n.2097T>G
ENST00000681746.1:c.*688T>G ENSP00000505959.1:n.*688T>G
ENST00000320005.5:c.2277T>G ENSP00000316605.5:p.Ser759Arg
ENST00000517327.5:c.276+2732T>G ENSP00000428329.1:n.276+2732T>G
NM_019098.4:c.2277T>G NP_061971.3:p.Ser759Arg
XM_011517138.1:c.1863T>G XP_011515440.1:p.Ser621Arg
XM_011517138.2:c.1863T>G XP_011515440.1:p.Ser621Arg
NM_019098.5:c.2277T>G MANE Select NP_061971.3:p.Ser759Arg