Canonical Allele Identifier: CA1793936

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396204A>G , CM000664.2:g.98396204A>G	GRCh38
NC_000002.11:g.99012667A>G , CM000664.1:g.99012667A>G	GRCh37
NC_000002.10:g.98379099A>G	NCBI36
NG_009097.1:g.55050A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.1034A>G MANE Select	NP_001289.1:p.His345Arg
ENST00000272602.7:c.1034A>G MANE Select	ENSP00000272602.2:p.His345Arg
NM_001079878.1:c.980A>G	NP_001073347.1:p.His327Arg
NM_001079878.2:c.980A>G	NP_001073347.1:p.His327Arg
NM_001298.2:c.1034A>G	NP_001289.1:p.His345Arg
ENST00000272602.6:c.1034A>G	ENSP00000272602.2:p.His345Arg
ENST00000393504.5:c.1034A>G	ENSP00000377140.1:p.His345Arg
ENST00000409937.1:c.1046A>G	ENSP00000386761.1:p.His349Arg
ENST00000436404.6:c.980A>G	ENSP00000410070.2:p.His327Arg
XM_006712243.2:c.1145A>G	XP_006712306.1:p.His382Arg
XM_011510554.1:c.1199A>G	XP_011508856.1:p.His400Arg
XM_011510554.2:c.1199A>G	XP_011508856.1:p.His400Arg