Canonical Allele Identifier: CA8083831

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 437976
• ClinVar RCV Id: RCV000504965 ; RCV000678544 ; RCV001056559 ; RCV001074746
• dbSNP Id: rs189234741
• ExAC: 16:57996515 C / T
• gnomAD v2: 16-57996515-C-T
• gnomAD v3: 16-57962611-C-T
• gnomAD v4: 16-57962611-C-T
• MyVariant Identifiers: chr16:g.57996515C>T (hg19) ; chr16:g.57962611C>T (hg38)
• PubMed: PMID:21987686 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57962611C>T , CM000678.2:g.57962611C>T	GRCh38
NC_000016.9:g.57996515C>T , CM000678.1:g.57996515C>T	GRCh37
NC_000016.8:g.56554016C>T	NCBI36
NG_016351.1:g.13506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.413-1G>A MANE Select	ENSP00000251102.8:n.413-1G>A
ENST00000251102.12:c.413-1G>A	ENSP00000251102.8:n.413-1G>A
ENST00000311183.8:c.413-1G>A	ENSP00000311670.4:n.413-1G>A
ENST00000562761.1:c.413-1G>A	ENSP00000455708.1:n.413-1G>A
ENST00000564448.5:c.413-1G>A	ENSP00000454633.1:n.413-1G>A
NM_001135639.1:c.413-1G>A	NP_001129111.1:n.413-1G>A
NM_001286130.1:c.413-1G>A	NP_001273059.1:n.413-1G>A
NM_001297.4:c.413-1G>A	NP_001288.3:n.413-1G>A
XM_006721134.2:c.413-1G>A	XP_006721197.1:n.413-1G>A
NM_001135639.2:c.413-1G>A	NP_001129111.1:n.413-1G>A
NM_001286130.2:c.413-1G>A	NP_001273059.1:n.413-1G>A
NM_001297.5:c.413-1G>A MANE Select	NP_001288.3:n.413-1G>A