Canonical Allele Identifier: CA1793891

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 689726
• ClinVar RCV Id: RCV000850497 ; RCV001073600 ; RCV001384601
• dbSNP Id: rs374258471
• ExAC: 2:99012411 G / A
• gnomAD v2: 2-99012411-G-A
• gnomAD v3: 2-98395948-G-A
• gnomAD v4: 2-98395948-G-A
• MyVariant Identifiers: chr2:g.99012411G>A (hg19) ; chr2:g.98395948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395948G>A , CM000664.2:g.98395948G>A	GRCh38
NC_000002.11:g.99012411G>A , CM000664.1:g.99012411G>A	GRCh37
NC_000002.10:g.98378843G>A	NCBI36
NG_009097.1:g.54794G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.778G>A MANE Select	ENSP00000272602.2:p.Asp260Asn
ENST00000272602.6:c.778G>A	ENSP00000272602.2:p.Asp260Asn
ENST00000393504.5:c.778G>A	ENSP00000377140.1:p.Asp260Asn
ENST00000409937.1:c.790G>A	ENSP00000386761.1:p.Asp264Asn
ENST00000436404.6:c.724G>A	ENSP00000410070.2:p.Asp242Asn
NM_001079878.1:c.724G>A	NP_001073347.1:p.Asp242Asn
NM_001298.2:c.778G>A	NP_001289.1:p.Asp260Asn
XM_006712243.2:c.889G>A	XP_006712306.1:p.Asp297Asn
XM_011510554.1:c.943G>A	XP_011508856.1:p.Asp315Asn
XM_011510554.2:c.943G>A	XP_011508856.1:p.Asp315Asn
NM_001079878.2:c.724G>A	NP_001073347.1:p.Asp242Asn
NM_001298.3:c.778G>A MANE Select	NP_001289.1:p.Asp260Asn