Canonical Allele Identifier: CA4800503
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs770393099
ExAC: 8:87751898 G / A
gnomAD v2: 8-87751898-G-A
gnomAD v4: 8-86739670-G-A
MyVariant Identifiers: chr8:g.87751898G>A (hg19) chr8:g.86739670G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739670G>A , CM000670.2:g.86739670G>A GRCh38
NC_000008.10:g.87751898G>A , CM000670.1:g.87751898G>A GRCh37
NC_000008.9:g.87821014G>A NCBI36
NG_016980.1:g.9006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.196C>T MANE Select ENSP00000316605.5:p.His66Tyr
ENST00000681746.1:c.196C>T ENSP00000505959.1:p.His66Tyr
ENST00000320005.5:c.196C>T ENSP00000316605.5:p.His66Tyr
ENST00000519777.1:n.178C>T
NM_019098.4:c.196C>T NP_061971.3:p.His66Tyr
NM_019098.5:c.196C>T MANE Select NP_061971.3:p.His66Tyr
Search 100 bp 5'
Search 100 bp 3'