Canonical Allele Identifier: CA427820156

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99013205G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396742G>A , CM000664.2:g.98396742G>A	GRCh38
NC_000002.11:g.99013205G>A , CM000664.1:g.99013205G>A	GRCh37
NC_000002.10:g.98379637G>A	NCBI36
NG_009097.1:g.55588G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1572G>A MANE Select	ENSP00000272602.2:p.Glu524=
ENST00000272602.6:c.1572G>A	ENSP00000272602.2:p.Glu524=
ENST00000393504.5:c.1572G>A	ENSP00000377140.1:p.Glu524=
ENST00000409937.1:c.1584G>A	ENSP00000386761.1:p.Glu528=
ENST00000436404.6:c.1518G>A	ENSP00000410070.2:p.Glu506=
NM_001079878.1:c.1518G>A	NP_001073347.1:p.Glu506=
NM_001298.2:c.1572G>A	NP_001289.1:p.Glu524=
XM_006712243.2:c.1683G>A	XP_006712306.1:p.Glu561=
XM_011510554.1:c.1737G>A	XP_011508856.1:p.Glu579=
XM_011510554.2:c.1737G>A	XP_011508856.1:p.Glu579=
NM_001079878.2:c.1518G>A	NP_001073347.1:p.Glu506=
NM_001298.3:c.1572G>A MANE Select	NP_001289.1:p.Glu524=