Canonical Allele Identifier: CA347832017

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012359T>A (hg19) ; chr2:g.98395896T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395896T>A , CM000664.2:g.98395896T>A	GRCh38
NC_000002.11:g.99012359T>A , CM000664.1:g.99012359T>A	GRCh37
NC_000002.10:g.98378791T>A	NCBI36
NG_009097.1:g.54742T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.726T>A MANE Select	ENSP00000272602.2:p.His242Gln
ENST00000272602.6:c.726T>A	ENSP00000272602.2:p.His242Gln
ENST00000393504.5:c.726T>A	ENSP00000377140.1:p.His242Gln
ENST00000409937.1:c.738T>A	ENSP00000386761.1:p.His246Gln
ENST00000436404.6:c.672T>A	ENSP00000410070.2:p.His224Gln
NM_001079878.1:c.672T>A	NP_001073347.1:p.His224Gln
NM_001298.2:c.726T>A	NP_001289.1:p.His242Gln
XM_006712243.2:c.837T>A	XP_006712306.1:p.His279Gln
XM_011510554.1:c.891T>A	XP_011508856.1:p.His297Gln
XM_011510554.2:c.891T>A	XP_011508856.1:p.His297Gln
NM_001079878.2:c.672T>A	NP_001073347.1:p.His224Gln
NM_001298.3:c.726T>A MANE Select	NP_001289.1:p.His242Gln