Canonical Allele Identifier: CA1273419730

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396031C= , CM000664.2:g.98396031C=	GRCh38
NC_000002.11:g.99012494C= , CM000664.1:g.99012494C=	GRCh37
NC_000002.10:g.98378926C=	NCBI36
NG_009097.1:g.54877C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.861C= MANE Select	ENSP00000272602.2:p.Phe287=
ENST00000272602.6:c.861C=	ENSP00000272602.2:p.Phe287=
ENST00000393504.5:c.861C=	ENSP00000377140.1:p.Phe287=
ENST00000409937.1:c.873C=	ENSP00000386761.1:p.Phe291=
ENST00000436404.6:c.807C=	ENSP00000410070.2:p.Phe269=
NM_001079878.1:c.807C=	NP_001073347.1:p.Phe269=
NM_001298.2:c.861C=	NP_001289.1:p.Phe287=
XM_006712243.2:c.972C=	XP_006712306.1:p.Phe324=
XM_011510554.1:c.1026C=	XP_011508856.1:p.Phe342=
XM_011510554.2:c.1026C=	XP_011508856.1:p.Phe342=
NM_001079878.2:c.807C=	NP_001073347.1:p.Phe269=
NM_001298.3:c.861C= MANE Select	NP_001289.1:p.Phe287=