Canonical Allele Identifier: CA16041188
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 371674
ClinVar RCV Id: RCV000411120
dbSNP Id: rs1057517454

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86579104A>G , CM000670.2:g.86579104A>G GRCh38
NC_000008.10:g.87591332A>G , CM000670.1:g.87591332A>G GRCh37
NC_000008.9:g.87660448A>G NCBI36
NG_016980.1:g.169572T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1928+2T>C MANE Select ENSP00000316605.5:n.1928+2T>C
ENST00000681546.1:n.1748+2T>C
ENST00000681746.1:c.*339+2T>C ENSP00000505959.1:n.*339+2T>C
ENST00000320005.5:c.1928+2T>C ENSP00000316605.5:n.1928+2T>C
ENST00000517327.5:c.101+2T>C ENSP00000428329.1:n.101+2T>C
NM_019098.4:c.1928+2T>C NP_061971.3:n.1928+2T>C
XM_011517138.1:c.1514+2T>C XP_011515440.1:n.1514+2T>C
XM_011517138.2:c.1514+2T>C XP_011515440.1:n.1514+2T>C
NM_019098.5:c.1928+2T>C MANE Select NP_061971.3:n.1928+2T>C