Canonical Allele Identifier: CA2224829131

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57903852C= , CM000678.2:g.57903852C=	GRCh38
NC_000016.9:g.57937756C= , CM000678.1:g.57937756C=	GRCh37
NC_000016.8:g.56495257C=	NCBI36
NG_016351.1:g.72265G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.2764G= MANE Select	ENSP00000251102.8:p.Glu922=
ENST00000251102.12:c.2764G=	ENSP00000251102.8:p.Glu922=
ENST00000564448.5:c.2746G=	ENSP00000454633.1:p.Glu916=
ENST00000569643.1:n.421G=
NM_001286130.1:c.2746G=	NP_001273059.1:p.Glu916=
NM_001297.4:c.2764G=	NP_001288.3:p.Glu922=
XM_006721134.2:c.2764G=	XP_006721197.1:p.Glu922=
XM_011522870.1:c.1615G=	XP_011521172.1:p.Glu539=
XM_011522870.2:c.1615G=	XP_011521172.1:p.Glu539=
NM_001286130.2:c.2746G=	NP_001273059.1:p.Glu916=
NM_001297.5:c.2764G= MANE Select	NP_001288.3:p.Glu922=