Canonical Allele Identifier: CA347832268

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396018G>T , CM000664.2:g.98396018G>T	GRCh38
NC_000002.11:g.99012481G>T , CM000664.1:g.99012481G>T	GRCh37
NC_000002.10:g.98378913G>T	NCBI36
NG_009097.1:g.54864G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.848G>T MANE Select	NP_001289.1:p.Arg283Leu
ENST00000272602.7:c.848G>T MANE Select	ENSP00000272602.2:p.Arg283Leu
NM_001079878.1:c.794G>T	NP_001073347.1:p.Arg265Leu
NM_001079878.2:c.794G>T	NP_001073347.1:p.Arg265Leu
NM_001298.2:c.848G>T	NP_001289.1:p.Arg283Leu
ENST00000272602.6:c.848G>T	ENSP00000272602.2:p.Arg283Leu
ENST00000393504.5:c.848G>T	ENSP00000377140.1:p.Arg283Leu
ENST00000409937.1:c.860G>T	ENSP00000386761.1:p.Arg287Leu
ENST00000436404.6:c.794G>T	ENSP00000410070.2:p.Arg265Leu
XM_006712243.2:c.959G>T	XP_006712306.1:p.Arg320Leu
XM_011510554.1:c.1013G>T	XP_011508856.1:p.Arg338Leu
XM_011510554.2:c.1013G>T	XP_011508856.1:p.Arg338Leu