Canonical Allele Identifier: CA8082571

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320060
• ClinVar RCV Id: RCV000376862 ; RCV001092933 ; RCV003888751
• dbSNP Id: rs201449358
• ExAC: 16:57921800 C / T
• gnomAD v2: 16-57921800-C-T
• gnomAD v3: 16-57887896-C-T
• gnomAD v4: 16-57887896-C-T
• COSMIC: COSM1163126
• MyVariant Identifiers: chr16:g.57921800C>T (hg19) ; chr16:g.57887896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57887896C>T , CM000678.2:g.57887896C>T	GRCh38
NC_000016.9:g.57921800C>T , CM000678.1:g.57921800C>T	GRCh37
NC_000016.8:g.56479301C>T	NCBI36
NG_016351.1:g.88221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.3421G>A MANE Select	ENSP00000251102.8:p.Ala1141Thr
ENST00000251102.12:c.3421G>A	ENSP00000251102.8:p.Ala1141Thr
ENST00000564448.5:c.3403G>A	ENSP00000454633.1:p.Ala1135Thr
ENST00000565942.1:c.289-3439G>A
NM_001286130.1:c.3403G>A	NP_001273059.1:p.Ala1135Thr
NM_001297.4:c.3421G>A	NP_001288.3:p.Ala1141Thr
XM_006721134.2:c.3421G>A	XP_006721197.1:p.Ala1141Thr
XM_011522870.1:c.2272G>A	XP_011521172.1:p.Ala758Thr
XM_011522870.2:c.2272G>A	XP_011521172.1:p.Ala758Thr
NM_001286130.2:c.3403G>A	NP_001273059.1:p.Ala1135Thr
NM_001297.5:c.3421G>A MANE Select	NP_001288.3:p.Ala1141Thr