Canonical Allele Identifier: CA1799825659

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643760T= , CM000670.2:g.86643760T=	GRCh38
NC_000008.10:g.87655988T= , CM000670.1:g.87655988T=	GRCh37
NC_000008.9:g.87725104T=	NCBI36
NG_016980.1:g.104916A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1169A= MANE Select	ENSP00000316605.5:p.Glu390=
ENST00000681546.1:n.989A=
ENST00000681746.1:c.1169A=	ENSP00000505959.1:p.Glu390=
ENST00000320005.5:c.1169A=	ENSP00000316605.5:p.Glu390=
NM_019098.4:c.1169A=	NP_061971.3:p.Glu390=
XM_011517138.1:c.755A=	XP_011515440.1:p.Glu252=
XM_011517138.2:c.755A=	XP_011515440.1:p.Glu252=
NM_019098.5:c.1169A= MANE Select	NP_061971.3:p.Glu390=