Canonical Allele Identifier: CA371456769
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1294388414
gnomAD v2: 8-87751945-T-C
gnomAD v4: 8-86739717-T-C
MyVariant Identifiers: chr8:g.87751945T>C (hg19) chr8:g.86739717T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739717T>C , CM000670.2:g.86739717T>C GRCh38
NC_000008.10:g.87751945T>C , CM000670.1:g.87751945T>C GRCh37
NC_000008.9:g.87821061T>C NCBI36
NG_016980.1:g.8959A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.149A>G MANE Select ENSP00000316605.5:p.Glu50Gly
ENST00000681746.1:c.149A>G ENSP00000505959.1:p.Glu50Gly
ENST00000320005.5:c.149A>G ENSP00000316605.5:p.Glu50Gly
ENST00000519777.1:n.131A>G
NM_019098.4:c.149A>G NP_061971.3:p.Glu50Gly
NM_019098.5:c.149A>G MANE Select NP_061971.3:p.Glu50Gly
Search 100 bp 5'
Search 100 bp 3'