Canonical Allele Identifier: CA1139660618
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 910435
ClinVar RCV Id: RCV001162207 RCV001162208
dbSNP Id: rs1821640855
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575513A>T , CM000670.2:g.86575513A>T GRCh38
NC_000008.10:g.87587741A>T , CM000670.1:g.87587741A>T GRCh37
NC_000008.9:g.87656857A>T NCBI36
NG_016980.1:g.173163T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*291T>A MANE Select ENSP00000316605.5:n.*291T>A
ENST00000681546.1:n.2541T>A
ENST00000681746.1:c.*1132T>A ENSP00000505959.1:n.*1132T>A
ENST00000320005.5:c.*291T>A ENSP00000316605.5:n.*291T>A
ENST00000517327.5:c.276+3176T>A ENSP00000428329.1:n.276+3176T>A
NM_019098.4:c.*291T>A NP_061971.3:n.*291T>A
XM_011517138.1:c.*291T>A XP_011515440.1:n.*291T>A
XM_011517138.2:c.*291T>A XP_011515440.1:n.*291T>A
NM_019098.5:c.*291T>A MANE Select NP_061971.3:n.*291T>A
Search 100 bp 5'
Search 100 bp 3'