Canonical Allele Identifier: CA1799783474

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575505G= , CM000670.2:g.86575505G=	GRCh38
NC_000008.10:g.87587733G= , CM000670.1:g.87587733G=	GRCh37
NC_000008.9:g.87656849G=	NCBI36
NG_016980.1:g.173171C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*299C= MANE Select	ENSP00000316605.5:n.*299C=
ENST00000681546.1:n.2549C=
ENST00000681746.1:c.*1140C=	ENSP00000505959.1:n.*1140C=
ENST00000320005.5:c.*299C=	ENSP00000316605.5:n.*299C=
ENST00000517327.5:c.276+3184C=	ENSP00000428329.1:n.276+3184C=
NM_019098.4:c.*299C=	NP_061971.3:n.*299C=
XM_011517138.1:c.*299C=	XP_011515440.1:n.*299C=
XM_011517138.2:c.*299C=	XP_011515440.1:n.*299C=
NM_019098.5:c.*299C= MANE Select	NP_061971.3:n.*299C=