Canonical Allele Identifier: CA1799868814

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632893C= , CM000670.2:g.86632893C=	GRCh38
NC_000008.10:g.87645121C= , CM000670.1:g.87645121C=	GRCh37
NC_000008.9:g.87714237C=	NCBI36
NG_016980.1:g.115783G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179G= MANE Select	ENSP00000316605.5:p.Glu393=
ENST00000681546.1:n.999G=
ENST00000681746.1:c.1179G=	ENSP00000505959.1:p.Glu393=
ENST00000320005.5:c.1179G=	ENSP00000316605.5:p.Glu393=
NM_019098.4:c.1179G=	NP_061971.3:p.Glu393=
XM_011517138.1:c.765G=	XP_011515440.1:p.Glu255=
XM_011517138.2:c.765G=	XP_011515440.1:p.Glu255=
NM_019098.5:c.1179G= MANE Select	NP_061971.3:p.Glu393=