Canonical Allele Identifier: CA1793893

Gene: CNGA3

Linked Data

• dbSNP Id: rs750175156
• ExAC: 2:99012417 G / A
• gnomAD v2: 2-99012417-G-A
• gnomAD v3: 2-98395954-G-A
• gnomAD v4: 2-98395954-G-A
• MyVariant Identifiers: chr2:g.99012417G>A (hg19) ; chr2:g.98395954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395954G>A , CM000664.2:g.98395954G>A	GRCh38
NC_000002.11:g.99012417G>A , CM000664.1:g.99012417G>A	GRCh37
NC_000002.10:g.98378849G>A	NCBI36
NG_009097.1:g.54800G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.784G>A MANE Select	ENSP00000272602.2:p.Ala262Thr
ENST00000272602.6:c.784G>A	ENSP00000272602.2:p.Ala262Thr
ENST00000393504.5:c.784G>A	ENSP00000377140.1:p.Ala262Thr
ENST00000409937.1:c.796G>A	ENSP00000386761.1:p.Ala266Thr
ENST00000436404.6:c.730G>A	ENSP00000410070.2:p.Ala244Thr
NM_001079878.1:c.730G>A	NP_001073347.1:p.Ala244Thr
NM_001298.2:c.784G>A	NP_001289.1:p.Ala262Thr
XM_006712243.2:c.895G>A	XP_006712306.1:p.Ala299Thr
XM_011510554.1:c.949G>A	XP_011508856.1:p.Ala317Thr
XM_011510554.2:c.949G>A	XP_011508856.1:p.Ala317Thr
NM_001079878.2:c.730G>A	NP_001073347.1:p.Ala244Thr
NM_001298.3:c.784G>A MANE Select	NP_001289.1:p.Ala262Thr