Canonical Allele Identifier: CA427567047

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 2096554
• ClinVar RCV Id: RCV003016246
• MyVariant Identifiers: chr2:g.99006124G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389661G>A , CM000664.2:g.98389661G>A	GRCh38
NC_000002.11:g.99006124G>A , CM000664.1:g.99006124G>A	GRCh37
NC_000002.10:g.98372556G>A	NCBI36
NG_009097.1:g.48507G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.453G>A MANE Select	ENSP00000272602.2:p.Lys151=
ENST00000272602.6:c.453G>A	ENSP00000272602.2:p.Lys151=
ENST00000393503.2:n.458G>A
ENST00000393504.5:c.453G>A	ENSP00000377140.1:p.Lys151=
ENST00000409937.1:c.465G>A	ENSP00000386761.1:p.Lys155=
ENST00000436404.6:c.399G>A	ENSP00000410070.2:p.Lys133=
NM_001079878.1:c.399G>A	NP_001073347.1:p.Lys133=
NM_001298.2:c.453G>A	NP_001289.1:p.Lys151=
XM_006712243.2:c.564G>A	XP_006712306.1:p.Lys188=
XM_011510554.1:c.618G>A	XP_011508856.1:p.Lys206=
XM_011510554.2:c.618G>A	XP_011508856.1:p.Lys206=
NM_001079878.2:c.399G>A	NP_001073347.1:p.Lys133=
NM_001298.3:c.453G>A MANE Select	NP_001289.1:p.Lys151=