Canonical Allele Identifier: CA1794039

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1428966
• ClinVar RCV Id: RCV001967127
• dbSNP Id: rs112736405
• ExAC: 2:99013203 G / A
• gnomAD v2: 2-99013203-G-A
• gnomAD v3: 2-98396740-G-A
• gnomAD v4: 2-98396740-G-A
• MyVariant Identifiers: chr2:g.99013203G>A (hg19) ; chr2:g.98396740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396740G>A , CM000664.2:g.98396740G>A	GRCh38
NC_000002.11:g.99013203G>A , CM000664.1:g.99013203G>A	GRCh37
NC_000002.10:g.98379635G>A	NCBI36
NG_009097.1:g.55586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1570G>A MANE Select	ENSP00000272602.2:p.Glu524Lys
ENST00000272602.6:c.1570G>A	ENSP00000272602.2:p.Glu524Lys
ENST00000393504.5:c.1570G>A	ENSP00000377140.1:p.Glu524Lys
ENST00000409937.1:c.1582G>A	ENSP00000386761.1:p.Glu528Lys
ENST00000436404.6:c.1516G>A	ENSP00000410070.2:p.Glu506Lys
NM_001079878.1:c.1516G>A	NP_001073347.1:p.Glu506Lys
NM_001298.2:c.1570G>A	NP_001289.1:p.Glu524Lys
XM_006712243.2:c.1681G>A	XP_006712306.1:p.Glu561Lys
XM_011510554.1:c.1735G>A	XP_011508856.1:p.Glu579Lys
XM_011510554.2:c.1735G>A	XP_011508856.1:p.Glu579Lys
NM_001079878.2:c.1516G>A	NP_001073347.1:p.Glu506Lys
NM_001298.3:c.1570G>A MANE Select	NP_001289.1:p.Glu524Lys