Canonical Allele Identifier: CA8083935

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320112
• ClinVar RCV Id: RCV000309330 ; RCV001000923 ; RCV001430950 ; RCV002522881 ; RCV003910216
• dbSNP Id: rs201407276
• ExAC: 16:57998092 C / T
• gnomAD v2: 16-57998092-C-T
• gnomAD v3: 16-57964188-C-T
• gnomAD v4: 16-57964188-C-T
• MyVariant Identifiers: chr16:g.57998092C>T (hg19) ; chr16:g.57964188C>T (hg38)

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