Canonical Allele Identifier: CA1793882

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 971798
• ClinVar RCV Id: RCV001247667
• dbSNP Id: rs761494287
• ExAC: 2:99012357 C / G
• gnomAD v2: 2-99012357-C-G
• gnomAD v4: 2-98395894-C-G
• MyVariant Identifiers: chr2:g.99012357C>G (hg19) ; chr2:g.98395894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395894C>G , CM000664.2:g.98395894C>G	GRCh38
NC_000002.11:g.99012357C>G , CM000664.1:g.99012357C>G	GRCh37
NC_000002.10:g.98378789C>G	NCBI36
NG_009097.1:g.54740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.724C>G MANE Select	ENSP00000272602.2:p.His242Asp
ENST00000272602.6:c.724C>G	ENSP00000272602.2:p.His242Asp
ENST00000393504.5:c.724C>G	ENSP00000377140.1:p.His242Asp
ENST00000409937.1:c.736C>G	ENSP00000386761.1:p.His246Asp
ENST00000436404.6:c.670C>G	ENSP00000410070.2:p.His224Asp
NM_001079878.1:c.670C>G	NP_001073347.1:p.His224Asp
NM_001298.2:c.724C>G	NP_001289.1:p.His242Asp
XM_006712243.2:c.835C>G	XP_006712306.1:p.His279Asp
XM_011510554.1:c.889C>G	XP_011508856.1:p.His297Asp
XM_011510554.2:c.889C>G	XP_011508856.1:p.His297Asp
NM_001079878.2:c.670C>G	NP_001073347.1:p.His224Asp
NM_001298.3:c.724C>G MANE Select	NP_001289.1:p.His242Asp