Canonical Allele Identifier: CA347832109

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395939-G-A
• MyVariant Identifiers: chr2:g.99012402G>A (hg19) ; chr2:g.98395939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395939G>A , CM000664.2:g.98395939G>A	GRCh38
NC_000002.11:g.99012402G>A , CM000664.1:g.99012402G>A	GRCh37
NC_000002.10:g.98378834G>A	NCBI36
NG_009097.1:g.54785G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.769G>A MANE Select	ENSP00000272602.2:p.Val257Ile
ENST00000272602.6:c.769G>A	ENSP00000272602.2:p.Val257Ile
ENST00000393504.5:c.769G>A	ENSP00000377140.1:p.Val257Ile
ENST00000409937.1:c.781G>A	ENSP00000386761.1:p.Val261Ile
ENST00000436404.6:c.715G>A	ENSP00000410070.2:p.Val239Ile
NM_001079878.1:c.715G>A	NP_001073347.1:p.Val239Ile
NM_001298.2:c.769G>A	NP_001289.1:p.Val257Ile
XM_006712243.2:c.880G>A	XP_006712306.1:p.Val294Ile
XM_011510554.1:c.934G>A	XP_011508856.1:p.Val312Ile
XM_011510554.2:c.934G>A	XP_011508856.1:p.Val312Ile
NM_001079878.2:c.715G>A	NP_001073347.1:p.Val239Ile
NM_001298.3:c.769G>A MANE Select	NP_001289.1:p.Val257Ile