Canonical Allele Identifier: CA1793765

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1559548
• ClinVar RCV Id: RCV002202933
• dbSNP Id: rs764028648
• ExAC: 2:99006130 G / A
• gnomAD v2: 2-99006130-G-A
• gnomAD v3: 2-98389667-G-A
• gnomAD v4: 2-98389667-G-A
• COSMIC: COSM127665
• MyVariant Identifiers: chr2:g.99006130G>A (hg19) ; chr2:g.98389667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389667G>A , CM000664.2:g.98389667G>A	GRCh38
NC_000002.11:g.99006130G>A , CM000664.1:g.99006130G>A	GRCh37
NC_000002.10:g.98372562G>A	NCBI36
NG_009097.1:g.48513G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.459G>A MANE Select	ENSP00000272602.2:p.Thr153=
ENST00000272602.6:c.459G>A	ENSP00000272602.2:p.Thr153=
ENST00000393503.2:n.464G>A
ENST00000393504.5:c.459G>A	ENSP00000377140.1:p.Thr153=
ENST00000409937.1:c.471G>A	ENSP00000386761.1:p.Thr157=
ENST00000436404.6:c.405G>A	ENSP00000410070.2:p.Thr135=
NM_001079878.1:c.405G>A	NP_001073347.1:p.Thr135=
NM_001298.2:c.459G>A	NP_001289.1:p.Thr153=
XM_006712243.2:c.570G>A	XP_006712306.1:p.Thr190=
XM_011510554.1:c.624G>A	XP_011508856.1:p.Thr208=
XM_011510554.2:c.624G>A	XP_011508856.1:p.Thr208=
NM_001079878.2:c.405G>A	NP_001073347.1:p.Thr135=
NM_001298.3:c.459G>A MANE Select	NP_001289.1:p.Thr153=