Canonical Allele Identifier: CA2224829743

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57904844T= , CM000678.2:g.57904844T=	GRCh38
NC_000016.9:g.57938748T= , CM000678.1:g.57938748T=	GRCh37
NC_000016.8:g.56496249T=	NCBI36
NG_016351.1:g.71273A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2524A= MANE Select	ENSP00000251102.8:p.Thr842=
ENST00000251102.12:c.2524A=	ENSP00000251102.8:p.Thr842=
ENST00000564448.5:c.2506A=	ENSP00000454633.1:p.Thr836=
ENST00000569643.1:n.181A=
NM_001286130.1:c.2506A=	NP_001273059.1:p.Thr836=
NM_001297.4:c.2524A=	NP_001288.3:p.Thr842=
XM_006721134.2:c.2524A=	XP_006721197.1:p.Thr842=
XM_011522870.1:c.1375A=	XP_011521172.1:p.Thr459=
XM_011522870.2:c.1375A=	XP_011521172.1:p.Thr459=
NM_001286130.2:c.2506A=	NP_001273059.1:p.Thr836=
NM_001297.5:c.2524A= MANE Select	NP_001288.3:p.Thr842=