Canonical Allele Identifier: CA2697549985
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2701311
ClinVar RCV Id: RCV003549630
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647781A>G , CM000670.2:g.86647781A>G GRCh38
NC_000008.10:g.87660009A>G , CM000670.1:g.87660009A>G GRCh37
NC_000008.9:g.87729125A>G NCBI36
NG_016980.1:g.100895T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.990+20T>C MANE Select ENSP00000316605.5:n.990+20T>C
ENST00000681546.1:n.810+20T>C
ENST00000681746.1:c.990+20T>C ENSP00000505959.1:n.990+20T>C
ENST00000320005.5:c.990+20T>C ENSP00000316605.5:n.990+20T>C
NM_019098.4:c.990+20T>C NP_061971.3:n.990+20T>C
XM_011517138.1:c.576+20T>C XP_011515440.1:n.576+20T>C
XM_011517138.2:c.576+20T>C XP_011515440.1:n.576+20T>C
NM_019098.5:c.990+20T>C MANE Select NP_061971.3:n.990+20T>C
Search 100 bp 5'
Search 100 bp 3'