Canonical Allele Identifier: CA1273419686

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395936C= , CM000664.2:g.98395936C=	GRCh38
NC_000002.11:g.99012399C= , CM000664.1:g.99012399C=	GRCh37
NC_000002.10:g.98378831C=	NCBI36
NG_009097.1:g.54782C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.766C= MANE Select	ENSP00000272602.2:p.Leu256=
ENST00000272602.6:c.766C=	ENSP00000272602.2:p.Leu256=
ENST00000393504.5:c.766C=	ENSP00000377140.1:p.Leu256=
ENST00000409937.1:c.778C=	ENSP00000386761.1:p.Leu260=
ENST00000436404.6:c.712C=	ENSP00000410070.2:p.Leu238=
NM_001079878.1:c.712C=	NP_001073347.1:p.Leu238=
NM_001298.2:c.766C=	NP_001289.1:p.Leu256=
XM_006712243.2:c.877C=	XP_006712306.1:p.Leu293=
XM_011510554.1:c.931C=	XP_011508856.1:p.Leu311=
XM_011510554.2:c.931C=	XP_011508856.1:p.Leu311=
NM_001079878.2:c.712C=	NP_001073347.1:p.Leu238=
NM_001298.3:c.766C= MANE Select	NP_001289.1:p.Leu256=