Canonical Allele Identifier: CA10625865
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 363848
dbSNP Id: rs372688369

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574433C>A , CM000670.2:g.86574433C>A GRCh38
NC_000008.10:g.87586661C>A , CM000670.1:g.87586661C>A GRCh37
NC_000008.9:g.87655777C>A NCBI36
NG_016980.1:g.174243G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1371G>T MANE Select ENSP00000316605.5:p.=
ENST00000681546.1:n.3621G>T
ENST00000681746.1:c.*2212G>T ENSP00000505959.1:p.=
ENST00000320005.5:c.*1371G>T ENSP00000316605.5:p.=
ENST00000517327.5:n.276+4256G>T ENSP00000428329.1:p.=
NM_019098.4:c.*1371G>T NP_061971.3:p.=
XM_011517138.1:c.*1371G>T XP_011515440.1:p.=
XM_011517138.2:c.*1371G>T XP_011515440.1:p.=
NM_019098.5:c.*1371G>T MANE Select NP_061971.3:p.=