Canonical Allele Identifier: CA8083335

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57920530G>T , CM000678.2:g.57920530G>T	GRCh38
NC_000016.9:g.57954434G>T , CM000678.1:g.57954434G>T	GRCh37
NC_000016.8:g.56511935G>T	NCBI36
NG_016351.1:g.55587C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1658C>A MANE Select	NP_001288.3:p.Ala553Glu
ENST00000251102.13:c.1658C>A MANE Select	ENSP00000251102.8:p.Ala553Glu
NM_001286130.1:c.1640C>A	NP_001273059.1:p.Ala547Glu
NM_001286130.2:c.1640C>A	NP_001273059.1:p.Ala547Glu
NM_001297.4:c.1658C>A	NP_001288.3:p.Ala553Glu
ENST00000251102.12:c.1658C>A	ENSP00000251102.8:p.Ala553Glu
ENST00000564448.5:c.1640C>A	ENSP00000454633.1:p.Ala547Glu
XM_006721134.2:c.1658C>A	XP_006721197.1:p.Ala553Glu
XM_011522870.1:c.509C>A	XP_011521172.1:p.Ala170Glu
XM_011522870.2:c.509C>A	XP_011521172.1:p.Ala170Glu
XR_933629.1:n.86-617G>T