Canonical Allele Identifier: CA1793912

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 503561
• ClinVar RCV Id: RCV000597637 ; RCV001066140 ; RCV003403409
• dbSNP Id: rs199837807
• ExAC: 2:99012502 G / A
• gnomAD v2: 2-99012502-G-A
• gnomAD v3: 2-98396039-G-A
• gnomAD v4: 2-98396039-G-A
• COSMIC: COSM1410189
• MyVariant Identifiers: chr2:g.99012502G>A (hg19) ; chr2:g.98396039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396039G>A , CM000664.2:g.98396039G>A	GRCh38
NC_000002.11:g.99012502G>A , CM000664.1:g.99012502G>A	GRCh37
NC_000002.10:g.98378934G>A	NCBI36
NG_009097.1:g.54885G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.869G>A MANE Select	ENSP00000272602.2:p.Arg290His
ENST00000272602.6:c.869G>A	ENSP00000272602.2:p.Arg290His
ENST00000393504.5:c.869G>A	ENSP00000377140.1:p.Arg290His
ENST00000409937.1:c.881G>A	ENSP00000386761.1:p.Arg294His
ENST00000436404.6:c.815G>A	ENSP00000410070.2:p.Arg272His
NM_001079878.1:c.815G>A	NP_001073347.1:p.Arg272His
NM_001298.2:c.869G>A	NP_001289.1:p.Arg290His
XM_006712243.2:c.980G>A	XP_006712306.1:p.Arg327His
XM_011510554.1:c.1034G>A	XP_011508856.1:p.Arg345His
XM_011510554.2:c.1034G>A	XP_011508856.1:p.Arg345His
NM_001079878.2:c.815G>A	NP_001073347.1:p.Arg272His
NM_001298.3:c.869G>A MANE Select	NP_001289.1:p.Arg290His