Canonical Allele Identifier: CA856371699
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1215646839
gnomAD v3: 8-86633114-A-C
gnomAD v4: 8-86633114-A-C
MyVariant Identifiers: chr8:g.87645342A>C (hg19) chr8:g.86633114A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86633114A>C , CM000670.2:g.86633114A>C GRCh38
NC_000008.10:g.87645342A>C , CM000670.1:g.87645342A>C GRCh37
NC_000008.9:g.87714458A>C NCBI36
NG_016980.1:g.115562T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-221T>G MANE Select ENSP00000316605.5:n.1179-221T>G
ENST00000681546.1:n.999-221T>G
ENST00000681746.1:c.1179-221T>G ENSP00000505959.1:n.1179-221T>G
ENST00000320005.5:c.1179-221T>G ENSP00000316605.5:n.1179-221T>G
NM_019098.4:c.1179-221T>G NP_061971.3:n.1179-221T>G
XM_011517138.1:c.765-221T>G XP_011515440.1:n.765-221T>G
XM_011517138.2:c.765-221T>G XP_011515440.1:n.765-221T>G
NM_019098.5:c.1179-221T>G MANE Select NP_061971.3:n.1179-221T>G
Search 100 bp 5'
Search 100 bp 3'