Canonical Allele Identifier: CA347831967

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 813041
• ClinVar RCV Id: RCV001199464
• dbSNP Id: rs1692898861
• MyVariant Identifiers: chr2:g.99012337A>T (hg19) ; chr2:g.98395874A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395874A>T , CM000664.2:g.98395874A>T	GRCh38
NC_000002.11:g.99012337A>T , CM000664.1:g.99012337A>T	GRCh37
NC_000002.10:g.98378769A>T	NCBI36
NG_009097.1:g.54720A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.704A>T MANE Select	ENSP00000272602.2:p.Asp235Val
ENST00000272602.6:c.704A>T	ENSP00000272602.2:p.Asp235Val
ENST00000393504.5:c.704A>T	ENSP00000377140.1:p.Asp235Val
ENST00000409937.1:c.716A>T	ENSP00000386761.1:p.Asp239Val
ENST00000436404.6:c.650A>T	ENSP00000410070.2:p.Asp217Val
NM_001079878.1:c.650A>T	NP_001073347.1:p.Asp217Val
NM_001298.2:c.704A>T	NP_001289.1:p.Asp235Val
XM_006712243.2:c.815A>T	XP_006712306.1:p.Asp272Val
XM_011510554.1:c.869A>T	XP_011508856.1:p.Asp290Val
XM_011510554.2:c.869A>T	XP_011508856.1:p.Asp290Val
NM_001079878.2:c.650A>T	NP_001073347.1:p.Asp217Val
NM_001298.3:c.704A>T MANE Select	NP_001289.1:p.Asp235Val