Canonical Allele Identifier: CA2580068350

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 2124911
• ClinVar RCV Id: RCV003039850

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395875_98395876dup , CM000664.2:g.98395875_98395876dup	GRCh38
NC_000002.11:g.99012338_99012339dup , CM000664.1:g.99012338_99012339dup	GRCh37
NC_000002.10:g.98378770_98378771dup	NCBI36
NG_009097.1:g.54721_54722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.705_706dup MANE Select	ENSP00000272602.2:p.Thr236IlefsTer30
ENST00000272602.6:c.705_706dup	ENSP00000272602.2:p.Thr236IlefsTer30
ENST00000393504.5:c.705_706dup	ENSP00000377140.1:p.Thr236IlefsTer30
ENST00000409937.1:c.717_718dup	ENSP00000386761.1:p.Thr240IlefsTer30
ENST00000436404.6:c.651_652dup	ENSP00000410070.2:p.Thr218IlefsTer30
NM_001079878.1:c.651_652dup	NP_001073347.1:p.Thr218IlefsTer30
NM_001298.2:c.705_706dup	NP_001289.1:p.Thr236IlefsTer30
XM_006712243.2:c.816_817dup	XP_006712306.1:p.Thr273IlefsTer30
XM_011510554.1:c.870_871dup	XP_011508856.1:p.Thr291IlefsTer30
XM_011510554.2:c.870_871dup	XP_011508856.1:p.Thr291IlefsTer30
NM_001079878.2:c.651_652dup	NP_001073347.1:p.Thr218IlefsTer30
NM_001298.3:c.705_706dup MANE Select	NP_001289.1:p.Thr236IlefsTer30