Canonical Allele Identifier: CA1799784534

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576055G= , CM000670.2:g.86576055G=	GRCh38
NC_000008.10:g.87588283G= , CM000670.1:g.87588283G=	GRCh37
NC_000008.9:g.87657399G=	NCBI36
NG_016980.1:g.172621C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2179C= MANE Select	ENSP00000316605.5:p.Gln727=
ENST00000681546.1:n.1999C=
ENST00000681746.1:c.*590C=	ENSP00000505959.1:n.*590C=
ENST00000320005.5:c.2179C=	ENSP00000316605.5:p.Gln727=
ENST00000517327.5:c.276+2634C=	ENSP00000428329.1:n.276+2634C=
NM_019098.4:c.2179C=	NP_061971.3:p.Gln727=
XM_011517138.1:c.1765C=	XP_011515440.1:p.Gln589=
XM_011517138.2:c.1765C=	XP_011515440.1:p.Gln589=
NM_019098.5:c.2179C= MANE Select	NP_061971.3:p.Gln727=