Canonical Allele Identifier: CA2224829136

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57903858A= , CM000678.2:g.57903858A=	GRCh38
NC_000016.9:g.57937762A= , CM000678.1:g.57937762A=	GRCh37
NC_000016.8:g.56495263A=	NCBI36
NG_016351.1:g.72259T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.2758T= MANE Select	ENSP00000251102.8:p.Trp920=
ENST00000251102.12:c.2758T=	ENSP00000251102.8:p.Trp920=
ENST00000564448.5:c.2740T=	ENSP00000454633.1:p.Trp914=
ENST00000569643.1:n.415T=
NM_001286130.1:c.2740T=	NP_001273059.1:p.Trp914=
NM_001297.4:c.2758T=	NP_001288.3:p.Trp920=
XM_006721134.2:c.2758T=	XP_006721197.1:p.Trp920=
XM_011522870.1:c.1609T=	XP_011521172.1:p.Trp537=
XM_011522870.2:c.1609T=	XP_011521172.1:p.Trp537=
NM_001286130.2:c.2740T=	NP_001273059.1:p.Trp914=
NM_001297.5:c.2758T= MANE Select	NP_001288.3:p.Trp920=