Canonical Allele Identifier: CA347831948

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012330G>A (hg19) ; chr2:g.98395867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395867G>A , CM000664.2:g.98395867G>A	GRCh38
NC_000002.11:g.99012330G>A , CM000664.1:g.99012330G>A	GRCh37
NC_000002.10:g.98378762G>A	NCBI36
NG_009097.1:g.54713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.697G>A MANE Select	ENSP00000272602.2:p.Val233Ile
ENST00000272602.6:c.697G>A	ENSP00000272602.2:p.Val233Ile
ENST00000393504.5:c.697G>A	ENSP00000377140.1:p.Val233Ile
ENST00000409937.1:c.709G>A	ENSP00000386761.1:p.Val237Ile
ENST00000436404.6:c.643G>A	ENSP00000410070.2:p.Val215Ile
NM_001079878.1:c.643G>A	NP_001073347.1:p.Val215Ile
NM_001298.2:c.697G>A	NP_001289.1:p.Val233Ile
XM_006712243.2:c.808G>A	XP_006712306.1:p.Val270Ile
XM_011510554.1:c.862G>A	XP_011508856.1:p.Val288Ile
XM_011510554.2:c.862G>A	XP_011508856.1:p.Val288Ile
NM_001079878.2:c.643G>A	NP_001073347.1:p.Val215Ile
NM_001298.3:c.697G>A MANE Select	NP_001289.1:p.Val233Ile