Canonical Allele Identifier: CA4800502
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs749235146
ExAC: 8:87751894 G / A
gnomAD v2: 8-87751894-G-A
gnomAD v3: 8-86739666-G-A
gnomAD v4: 8-86739666-G-A
MyVariant Identifiers: chr8:g.87751894G>A (hg19) chr8:g.86739666G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739666G>A , CM000670.2:g.86739666G>A GRCh38
NC_000008.10:g.87751894G>A , CM000670.1:g.87751894G>A GRCh37
NC_000008.9:g.87821010G>A NCBI36
NG_016980.1:g.9010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.200C>T MANE Select ENSP00000316605.5:p.Thr67Ile
ENST00000681746.1:c.200C>T ENSP00000505959.1:p.Thr67Ile
ENST00000320005.5:c.200C>T ENSP00000316605.5:p.Thr67Ile
ENST00000519777.1:n.182C>T
NM_019098.4:c.200C>T NP_061971.3:p.Thr67Ile
NM_019098.5:c.200C>T MANE Select NP_061971.3:p.Thr67Ile
Search 100 bp 5'
Search 100 bp 3'