Canonical Allele Identifier: CA8083935
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57964188C>T
GRCh37 chr16:g.57998092C>T
Revel Score:
ENST00000251102 (MANE Select) 0.093
ENST00000311183 0.093
gnomAD v2:
16:57998092 C / T
gnomAD v3:
16:57964188 C / T
gnomAD v4:
chr16-57964188-C-T
Joint Max Group AF 0.00338351 (AFR)
Genomes Max Group AF 0.00331631 (AFR)
Exomes Max Group AF 0.00314622 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57964188C>T , CM000678.2:g.57964188C>T GRCh38
NC_000016.9:g.57998092C>T , CM000678.1:g.57998092C>T GRCh37
NC_000016.8:g.56555593C>T NCBI36
NG_016351.1:g.11929G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.232G>A MANE Select ENSP00000251102.8:p.Ala78Thr
ENST00000251102.12:c.232G>A ENSP00000251102.8:p.Ala78Thr
ENST00000311183.8:c.232G>A ENSP00000311670.4:p.Ala78Thr
ENST00000562761.1:c.232G>A ENSP00000455708.1:p.Ala78Thr
ENST00000564448.5:c.232G>A ENSP00000454633.1:p.Ala78Thr
ENST00000567568.1:n.290G>A
NM_001135639.1:c.232G>A NP_001129111.1:p.Ala78Thr
NM_001286130.1:c.232G>A NP_001273059.1:p.Ala78Thr
NM_001297.4:c.232G>A NP_001288.3:p.Ala78Thr
XM_006721134.2:c.232G>A XP_006721197.1:p.Ala78Thr
NM_001135639.2:c.232G>A NP_001129111.1:p.Ala78Thr
NM_001286130.2:c.232G>A NP_001273059.1:p.Ala78Thr
NM_001297.5:c.232G>A MANE Select NP_001288.3:p.Ala78Thr
Search 100 bp 5'
Search 100 bp 3'