Canonical Allele Identifier: CA1794043

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 2203123
• ClinVar RCV Id: RCV002651494
• dbSNP Id: rs779023431
• ExAC: 2:99013213 T / G
• gnomAD v2: 2-99013213-T-G
• gnomAD v3: 2-98396750-T-G
• gnomAD v4: 2-98396750-T-G
• MyVariant Identifiers: chr2:g.99013213T>G (hg19) ; chr2:g.98396750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396750T>G , CM000664.2:g.98396750T>G	GRCh38
NC_000002.11:g.99013213T>G , CM000664.1:g.99013213T>G	GRCh37
NC_000002.10:g.98379645T>G	NCBI36
NG_009097.1:g.55596T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1580T>G MANE Select	ENSP00000272602.2:p.Leu527Arg
ENST00000272602.6:c.1580T>G	ENSP00000272602.2:p.Leu527Arg
ENST00000393504.5:c.1580T>G	ENSP00000377140.1:p.Leu527Arg
ENST00000409937.1:c.1592T>G	ENSP00000386761.1:p.Leu531Arg
ENST00000436404.6:c.1526T>G	ENSP00000410070.2:p.Leu509Arg
NM_001079878.1:c.1526T>G	NP_001073347.1:p.Leu509Arg
NM_001298.2:c.1580T>G	NP_001289.1:p.Leu527Arg
XM_006712243.2:c.1691T>G	XP_006712306.1:p.Leu564Arg
XM_011510554.1:c.1745T>G	XP_011508856.1:p.Leu582Arg
XM_011510554.2:c.1745T>G	XP_011508856.1:p.Leu582Arg
NM_001079878.2:c.1526T>G	NP_001073347.1:p.Leu509Arg
NM_001298.3:c.1580T>G MANE Select	NP_001289.1:p.Leu527Arg