Canonical Allele Identifier: CA8083305

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320089
• ClinVar RCV Id: RCV000334121 ; RCV002061206
• dbSNP Id: rs770735553
• ExAC: 16:57954322 G / C
• gnomAD v2: 16-57954322-G-C
• gnomAD v4: 16-57920418-G-C
• MyVariant Identifiers: chr16:g.57954322G>C (hg19) ; chr16:g.57920418G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57920418G>C , CM000678.2:g.57920418G>C	GRCh38
NC_000016.9:g.57954322G>C , CM000678.1:g.57954322G>C	GRCh37
NC_000016.8:g.56511823G>C	NCBI36
NG_016351.1:g.55699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.1770C>G MANE Select	ENSP00000251102.8:p.Asp590Glu
ENST00000251102.12:c.1770C>G	ENSP00000251102.8:p.Asp590Glu
ENST00000564448.5:c.1752C>G	ENSP00000454633.1:p.Asp584Glu
NM_001286130.1:c.1752C>G	NP_001273059.1:p.Asp584Glu
NM_001297.4:c.1770C>G	NP_001288.3:p.Asp590Glu
XM_006721134.2:c.1770C>G	XP_006721197.1:p.Asp590Glu
XM_011522870.1:c.621C>G	XP_011521172.1:p.Asp207Glu
XR_933629.1:n.86-729G>C
XM_011522870.2:c.621C>G	XP_011521172.1:p.Asp207Glu
NM_001286130.2:c.1752C>G	NP_001273059.1:p.Asp584Glu
NM_001297.5:c.1770C>G MANE Select	NP_001288.3:p.Asp590Glu