Canonical Allele Identifier: CA52635169

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1412069
• ClinVar RCV Id: RCV001923064
• dbSNP Id: rs949254623
• gnomAD v2: 2-99012306-G-C
• gnomAD v3: 2-98395843-G-C
• gnomAD v4: 2-98395843-G-C
• COSMIC: COSM4605760
• MyVariant Identifiers: chr2:g.99012306G>C (hg19) ; chr2:g.98395843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395843G>C , CM000664.2:g.98395843G>C	GRCh38
NC_000002.11:g.99012306G>C , CM000664.1:g.99012306G>C	GRCh37
NC_000002.10:g.98378738G>C	NCBI36
NG_009097.1:g.54689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-1G>C MANE Select	ENSP00000272602.2:n.674-1G>C
ENST00000272602.6:c.674-1G>C	ENSP00000272602.2:n.674-1G>C
ENST00000393504.5:c.674-1G>C	ENSP00000377140.1:n.674-1G>C
ENST00000409937.1:c.686-1G>C	ENSP00000386761.1:n.686-1G>C
ENST00000436404.6:c.620-1G>C	ENSP00000410070.2:n.620-1G>C
NM_001079878.1:c.620-1G>C	NP_001073347.1:n.620-1G>C
NM_001298.2:c.674-1G>C	NP_001289.1:n.674-1G>C
XM_006712243.2:c.785-1G>C	XP_006712306.1:n.785-1G>C
XM_011510554.1:c.839-1G>C	XP_011508856.1:n.839-1G>C
XM_011510554.2:c.839-1G>C	XP_011508856.1:n.839-1G>C
NM_001079878.2:c.620-1G>C	NP_001073347.1:n.620-1G>C
NM_001298.3:c.674-1G>C MANE Select	NP_001289.1:n.674-1G>C