Canonical Allele Identifier: CA1793760

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1453949
• ClinVar RCV Id: RCV001941629 ; RCV002471201 ; RCV003408009
• dbSNP Id: rs754158805
• ExAC: 2:99006120 G / A
• gnomAD v2: 2-99006120-G-A
• gnomAD v3: 2-98389657-G-A
• gnomAD v4: 2-98389657-G-A
• MyVariant Identifiers: chr2:g.99006120G>A (hg19) ; chr2:g.98389657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389657G>A , CM000664.2:g.98389657G>A	GRCh38
NC_000002.11:g.99006120G>A , CM000664.1:g.99006120G>A	GRCh37
NC_000002.10:g.98372552G>A	NCBI36
NG_009097.1:g.48503G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.450-1G>A MANE Select	ENSP00000272602.2:n.450-1G>A
ENST00000272602.6:c.450-1G>A	ENSP00000272602.2:n.450-1G>A
ENST00000393503.2:n.455-1G>A
ENST00000393504.5:c.450-1G>A	ENSP00000377140.1:n.450-1G>A
ENST00000409937.1:c.462-1G>A	ENSP00000386761.1:n.462-1G>A
ENST00000436404.6:c.396-1G>A	ENSP00000410070.2:n.396-1G>A
NM_001079878.1:c.396-1G>A	NP_001073347.1:n.396-1G>A
NM_001298.2:c.450-1G>A	NP_001289.1:n.450-1G>A
XM_006712243.2:c.561-1G>A	XP_006712306.1:n.561-1G>A
XM_011510554.1:c.615-1G>A	XP_011508856.1:n.615-1G>A
XM_011510554.2:c.615-1G>A	XP_011508856.1:n.615-1G>A
NM_001079878.2:c.396-1G>A	NP_001073347.1:n.396-1G>A
NM_001298.3:c.450-1G>A MANE Select	NP_001289.1:n.450-1G>A