Canonical Allele Identifier: CA1799784117

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575893G= , CM000670.2:g.86575893G=	GRCh38
NC_000008.10:g.87588121G= , CM000670.1:g.87588121G=	GRCh37
NC_000008.9:g.87657237G=	NCBI36
NG_016980.1:g.172783C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2341C= MANE Select	ENSP00000316605.5:p.Arg781=
ENST00000681546.1:n.2161C=
ENST00000681746.1:c.*752C=	ENSP00000505959.1:n.*752C=
ENST00000320005.5:c.2341C=	ENSP00000316605.5:p.Arg781=
ENST00000517327.5:c.276+2796C=	ENSP00000428329.1:n.276+2796C=
NM_019098.4:c.2341C=	NP_061971.3:p.Arg781=
XM_011517138.1:c.1927C=	XP_011515440.1:p.Arg643=
XM_011517138.2:c.1927C=	XP_011515440.1:p.Arg643=
NM_019098.5:c.2341C= MANE Select	NP_061971.3:p.Arg781=