Canonical Allele Identifier: CA347832131

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395950-C-A
• MyVariant Identifiers: chr2:g.99012413C>A (hg19) ; chr2:g.98395950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395950C>A , CM000664.2:g.98395950C>A	GRCh38
NC_000002.11:g.99012413C>A , CM000664.1:g.99012413C>A	GRCh37
NC_000002.10:g.98378845C>A	NCBI36
NG_009097.1:g.54796C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.780C>A MANE Select	ENSP00000272602.2:p.Asp260Glu
ENST00000272602.6:c.780C>A	ENSP00000272602.2:p.Asp260Glu
ENST00000393504.5:c.780C>A	ENSP00000377140.1:p.Asp260Glu
ENST00000409937.1:c.792C>A	ENSP00000386761.1:p.Asp264Glu
ENST00000436404.6:c.726C>A	ENSP00000410070.2:p.Asp242Glu
NM_001079878.1:c.726C>A	NP_001073347.1:p.Asp242Glu
NM_001298.2:c.780C>A	NP_001289.1:p.Asp260Glu
XM_006712243.2:c.891C>A	XP_006712306.1:p.Asp297Glu
XM_011510554.1:c.945C>A	XP_011508856.1:p.Asp315Glu
XM_011510554.2:c.945C>A	XP_011508856.1:p.Asp315Glu
NM_001079878.2:c.726C>A	NP_001073347.1:p.Asp242Glu
NM_001298.3:c.780C>A MANE Select	NP_001289.1:p.Asp260Glu