Canonical Allele Identifier: CA1793762

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1910141
• ClinVar RCV Id: RCV002593044
• dbSNP Id: rs765188294
• ExAC: 2:99006126 A / G
• gnomAD v2: 2-99006126-A-G
• gnomAD v4: 2-98389663-A-G
• MyVariant Identifiers: chr2:g.99006126A>G (hg19) ; chr2:g.98389663A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389663A>G , CM000664.2:g.98389663A>G	GRCh38
NC_000002.11:g.99006126A>G , CM000664.1:g.99006126A>G	GRCh37
NC_000002.10:g.98372558A>G	NCBI36
NG_009097.1:g.48509A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.455A>G MANE Select	ENSP00000272602.2:p.Lys152Arg
ENST00000272602.6:c.455A>G	ENSP00000272602.2:p.Lys152Arg
ENST00000393503.2:n.460A>G
ENST00000393504.5:c.455A>G	ENSP00000377140.1:p.Lys152Arg
ENST00000409937.1:c.467A>G	ENSP00000386761.1:p.Lys156Arg
ENST00000436404.6:c.401A>G	ENSP00000410070.2:p.Lys134Arg
NM_001079878.1:c.401A>G	NP_001073347.1:p.Lys134Arg
NM_001298.2:c.455A>G	NP_001289.1:p.Lys152Arg
XM_006712243.2:c.566A>G	XP_006712306.1:p.Lys189Arg
XM_011510554.1:c.620A>G	XP_011508856.1:p.Lys207Arg
XM_011510554.2:c.620A>G	XP_011508856.1:p.Lys207Arg
NM_001079878.2:c.401A>G	NP_001073347.1:p.Lys134Arg
NM_001298.3:c.455A>G MANE Select	NP_001289.1:p.Lys152Arg