Canonical Allele Identifier: CA1799783490

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575513A= , CM000670.2:g.86575513A=	GRCh38
NC_000008.10:g.87587741A= , CM000670.1:g.87587741A=	GRCh37
NC_000008.9:g.87656857A=	NCBI36
NG_016980.1:g.173163T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*291T= MANE Select	ENSP00000316605.5:n.*291T=
ENST00000681546.1:n.2541T=
ENST00000681746.1:c.*1132T=	ENSP00000505959.1:n.*1132T=
ENST00000320005.5:c.*291T=	ENSP00000316605.5:n.*291T=
ENST00000517327.5:c.276+3176T=	ENSP00000428329.1:n.276+3176T=
NM_019098.4:c.*291T=	NP_061971.3:n.*291T=
XM_011517138.1:c.*291T=	XP_011515440.1:n.*291T=
XM_011517138.2:c.*291T=	XP_011515440.1:n.*291T=
NM_019098.5:c.*291T= MANE Select	NP_061971.3:n.*291T=