Canonical Allele Identifier: CA1799784864

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576111C= , CM000670.2:g.86576111C=	GRCh38
NC_000008.10:g.87588339C= , CM000670.1:g.87588339C=	GRCh37
NC_000008.9:g.87657455C=	NCBI36
NG_016980.1:g.172565G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2123G= MANE Select	ENSP00000316605.5:p.Gly708=
ENST00000681546.1:n.1943G=
ENST00000681746.1:c.*534G=	ENSP00000505959.1:n.*534G=
ENST00000320005.5:c.2123G=	ENSP00000316605.5:p.Gly708=
ENST00000517327.5:c.276+2578G=	ENSP00000428329.1:n.276+2578G=
NM_019098.4:c.2123G=	NP_061971.3:p.Gly708=
XM_011517138.1:c.1709G=	XP_011515440.1:p.Gly570=
XM_011517138.2:c.1709G=	XP_011515440.1:p.Gly570=
NM_019098.5:c.2123G= MANE Select	NP_061971.3:p.Gly708=