Canonical Allele Identifier: CA347834077

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 865797
• ClinVar RCV Id: RCV001073296
• dbSNP Id: rs1692930941
• gnomAD v4: 2-98396856-C-A
• MyVariant Identifiers: chr2:g.99013319C>A (hg19) ; chr2:g.98396856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396856C>A , CM000664.2:g.98396856C>A	GRCh38
NC_000002.11:g.99013319C>A , CM000664.1:g.99013319C>A	GRCh37
NC_000002.10:g.98379751C>A	NCBI36
NG_009097.1:g.55702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.1686C>A MANE Select	ENSP00000272602.2:p.Asn562Lys
ENST00000272602.6:c.1686C>A	ENSP00000272602.2:p.Asn562Lys
ENST00000393504.5:c.1686C>A	ENSP00000377140.1:p.Asn562Lys
ENST00000409937.1:c.1698C>A	ENSP00000386761.1:p.Asn566Lys
ENST00000436404.6:c.1632C>A	ENSP00000410070.2:p.Asn544Lys
NM_001079878.1:c.1632C>A	NP_001073347.1:p.Asn544Lys
NM_001298.2:c.1686C>A	NP_001289.1:p.Asn562Lys
XM_006712243.2:c.1797C>A	XP_006712306.1:p.Asn599Lys
XM_011510554.1:c.1851C>A	XP_011508856.1:p.Asn617Lys
XM_011510554.2:c.1851C>A	XP_011508856.1:p.Asn617Lys
NM_001079878.2:c.1632C>A	NP_001073347.1:p.Asn544Lys
NM_001298.3:c.1686C>A MANE Select	NP_001289.1:p.Asn562Lys