Canonical Allele Identifier: CA2687825564
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647785-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647785A>G , CM000670.2:g.86647785A>G GRCh38
NC_000008.10:g.87660013A>G , CM000670.1:g.87660013A>G GRCh37
NC_000008.9:g.87729129A>G NCBI36
NG_016980.1:g.100891T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.990+16T>C MANE Select ENSP00000316605.5:n.990+16T>C
ENST00000681546.1:n.810+16T>C
ENST00000681746.1:c.990+16T>C ENSP00000505959.1:n.990+16T>C
ENST00000320005.5:c.990+16T>C ENSP00000316605.5:n.990+16T>C
NM_019098.4:c.990+16T>C NP_061971.3:n.990+16T>C
XM_011517138.1:c.576+16T>C XP_011515440.1:n.576+16T>C
XM_011517138.2:c.576+16T>C XP_011515440.1:n.576+16T>C
NM_019098.5:c.990+16T>C MANE Select NP_061971.3:n.990+16T>C
Search 100 bp 5'
Search 100 bp 3'