Canonical Allele Identifier: CA8083702

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320103
• ClinVar RCV Id: RCV000266798 ; RCV001523531
• dbSNP Id: rs187864931
• ExAC: 16:57993777 T / C
• gnomAD v2: 16-57993777-T-C
• gnomAD v3: 16-57959873-T-C
• gnomAD v4: 16-57959873-T-C
• MyVariant Identifiers: chr16:g.57993777T>C (hg19) ; chr16:g.57959873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57959873T>C , CM000678.2:g.57959873T>C	GRCh38
NC_000016.9:g.57993777T>C , CM000678.1:g.57993777T>C	GRCh37
NC_000016.8:g.56551278T>C	NCBI36
NG_016351.1:g.16244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.761+15A>G MANE Select	ENSP00000251102.8:n.761+15A>G
ENST00000251102.12:c.761+15A>G	ENSP00000251102.8:n.761+15A>G
ENST00000311183.8:c.761+15A>G	ENSP00000311670.4:n.761+15A>G
ENST00000564448.5:c.743+15A>G	ENSP00000454633.1:n.743+15A>G
NM_001135639.1:c.761+15A>G	NP_001129111.1:n.761+15A>G
NM_001286130.1:c.743+15A>G	NP_001273059.1:n.743+15A>G
NM_001297.4:c.761+15A>G	NP_001288.3:n.761+15A>G
XM_006721134.2:c.761+15A>G	XP_006721197.1:n.761+15A>G
NM_001135639.2:c.761+15A>G	NP_001129111.1:n.761+15A>G
NM_001286130.2:c.743+15A>G	NP_001273059.1:n.743+15A>G
NM_001297.5:c.761+15A>G MANE Select	NP_001288.3:n.761+15A>G