Canonical Allele Identifier: CA582917759
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1432349774
gnomAD v2: 8-87660024-C-T
gnomAD v4: 8-86647796-C-T
MyVariant Identifiers: chr8:g.87660024C>T (hg19) chr8:g.86647796C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647796C>T , CM000670.2:g.86647796C>T GRCh38
NC_000008.10:g.87660024C>T , CM000670.1:g.87660024C>T GRCh37
NC_000008.9:g.87729140C>T NCBI36
NG_016980.1:g.100880G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.990+5G>A MANE Select ENSP00000316605.5:n.990+5G>A
ENST00000681546.1:n.810+5G>A
ENST00000681746.1:c.990+5G>A ENSP00000505959.1:n.990+5G>A
ENST00000320005.5:c.990+5G>A ENSP00000316605.5:n.990+5G>A
NM_019098.4:c.990+5G>A NP_061971.3:n.990+5G>A
XM_011517138.1:c.576+5G>A XP_011515440.1:n.576+5G>A
XM_011517138.2:c.576+5G>A XP_011515440.1:n.576+5G>A
NM_019098.5:c.990+5G>A MANE Select NP_061971.3:n.990+5G>A
Search 100 bp 5'
Search 100 bp 3'