Canonical Allele Identifier: CA1799784329

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575989T= , CM000670.2:g.86575989T=	GRCh38
NC_000008.10:g.87588217T= , CM000670.1:g.87588217T=	GRCh37
NC_000008.9:g.87657333T=	NCBI36
NG_016980.1:g.172687A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2245A= MANE Select	ENSP00000316605.5:p.Lys749=
ENST00000681546.1:n.2065A=
ENST00000681746.1:c.*656A=	ENSP00000505959.1:n.*656A=
ENST00000320005.5:c.2245A=	ENSP00000316605.5:p.Lys749=
ENST00000517327.5:c.276+2700A=	ENSP00000428329.1:n.276+2700A=
NM_019098.4:c.2245A=	NP_061971.3:p.Lys749=
XM_011517138.1:c.1831A=	XP_011515440.1:p.Lys611=
XM_011517138.2:c.1831A=	XP_011515440.1:p.Lys611=
NM_019098.5:c.2245A= MANE Select	NP_061971.3:p.Lys749=