Canonical Allele Identifier: CA1793871

Gene: CNGA3

Linked Data

• dbSNP Id: rs764660037
• ExAC: 2:99012284 A / G
• gnomAD v2: 2-99012284-A-G
• gnomAD v3: 2-98395821-A-G
• gnomAD v4: 2-98395821-A-G
• COSMIC: COSN19054752
• MyVariant Identifiers: chr2:g.99012284A>G (hg19) ; chr2:g.98395821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395821A>G , CM000664.2:g.98395821A>G	GRCh38
NC_000002.11:g.99012284A>G , CM000664.1:g.99012284A>G	GRCh37
NC_000002.10:g.98378716A>G	NCBI36
NG_009097.1:g.54667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-23A>G MANE Select	ENSP00000272602.2:n.674-23A>G
ENST00000272602.6:c.674-23A>G	ENSP00000272602.2:n.674-23A>G
ENST00000393504.5:c.674-23A>G	ENSP00000377140.1:n.674-23A>G
ENST00000409937.1:c.686-23A>G	ENSP00000386761.1:n.686-23A>G
ENST00000436404.6:c.620-23A>G	ENSP00000410070.2:n.620-23A>G
NM_001079878.1:c.620-23A>G	NP_001073347.1:n.620-23A>G
NM_001298.2:c.674-23A>G	NP_001289.1:n.674-23A>G
XM_006712243.2:c.785-23A>G	XP_006712306.1:n.785-23A>G
XM_011510554.1:c.839-23A>G	XP_011508856.1:n.839-23A>G
XM_011510554.2:c.839-23A>G	XP_011508856.1:n.839-23A>G
NM_001079878.2:c.620-23A>G	NP_001073347.1:n.620-23A>G
NM_001298.3:c.674-23A>G MANE Select	NP_001289.1:n.674-23A>G