Canonical Allele Identifier: CA1273420076

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396811C= , CM000664.2:g.98396811C=	GRCh38
NC_000002.11:g.99013274C= , CM000664.1:g.99013274C=	GRCh37
NC_000002.10:g.98379706C=	NCBI36
NG_009097.1:g.55657C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.1641C= MANE Select	NP_001289.1:p.Phe547=
ENST00000272602.7:c.1641C= MANE Select	ENSP00000272602.2:p.Phe547=
NM_001079878.1:c.1587C=	NP_001073347.1:p.Phe529=
NM_001079878.2:c.1587C=	NP_001073347.1:p.Phe529=
NM_001298.2:c.1641C=	NP_001289.1:p.Phe547=
ENST00000272602.6:c.1641C=	ENSP00000272602.2:p.Phe547=
ENST00000393504.5:c.1641C=	ENSP00000377140.1:p.Phe547=
ENST00000409937.1:c.1653C=	ENSP00000386761.1:p.Phe551=
ENST00000436404.6:c.1587C=	ENSP00000410070.2:p.Phe529=
XM_006712243.2:c.1752C=	XP_006712306.1:p.Phe584=
XM_011510554.1:c.1806C=	XP_011508856.1:p.Phe602=
XM_011510554.2:c.1806C=	XP_011508856.1:p.Phe602=