Canonical Allele Identifier: CA461830970
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667075A>G , CM000670.2:g.86667075A>G GRCh38
NC_000008.10:g.87679303A>G , CM000670.1:g.87679303A>G GRCh37
NC_000008.9:g.87748419A>G NCBI36
NG_016980.1:g.81601T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.702T>C MANE Select ENSP00000316605.5:p.Cys234=
ENST00000681746.1:c.702T>C ENSP00000505959.1:p.Cys234=
ENST00000320005.5:c.702T>C ENSP00000316605.5:p.Cys234=
NM_019098.4:c.702T>C NP_061971.3:p.Cys234=
XM_011517138.1:c.288T>C XP_011515440.1:p.Cys96=
XM_011517138.2:c.288T>C XP_011515440.1:p.Cys96=
NM_019098.5:c.702T>C MANE Select NP_061971.3:p.Cys234=