Canonical Allele Identifier: CA4799884
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283824
ClinVar RCV Id: RCV000259449
dbSNP Id: rs368787128

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86579201G>A , CM000670.2:g.86579201G>A GRCh38
NC_000008.10:g.87591429G>A , CM000670.1:g.87591429G>A GRCh37
NC_000008.9:g.87660545G>A NCBI36
NG_016980.1:g.169475C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1833C>T MANE Select ENSP00000316605.5:p.His611=
ENST00000681546.1:n.1653C>T
ENST00000681746.1:c.*244C>T ENSP00000505959.1:p.=
ENST00000320005.5:c.1833C>T ENSP00000316605.5:p.His611=
ENST00000517327.5:n.6C>T ENSP00000428329.1:p.His2=
NM_019098.4:c.1833C>T NP_061971.3:p.His611=
XM_011517138.1:c.1419C>T XP_011515440.1:p.His473=
XM_011517138.2:c.1419C>T XP_011515440.1:p.His473=
NM_019098.5:c.1833C>T MANE Select NP_061971.3:p.His611=