Canonical Allele Identifier: CA1799829991

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647811C= , CM000670.2:g.86647811C=	GRCh38
NC_000008.10:g.87660039C= , CM000670.1:g.87660039C=	GRCh37
NC_000008.9:g.87729155C=	NCBI36
NG_016980.1:g.100865G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.980G= MANE Select	ENSP00000316605.5:p.Arg327=
ENST00000681546.1:n.800G=
ENST00000681746.1:c.980G=	ENSP00000505959.1:p.Arg327=
ENST00000320005.5:c.980G=	ENSP00000316605.5:p.Arg327=
NM_019098.4:c.980G=	NP_061971.3:p.Arg327=
XM_011517138.1:c.566G=	XP_011515440.1:p.Arg189=
XM_011517138.2:c.566G=	XP_011515440.1:p.Arg189=
NM_019098.5:c.980G= MANE Select	NP_061971.3:p.Arg327=