Canonical Allele Identifier: CA8083737

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57960054G>A , CM000678.2:g.57960054G>A	GRCh38
NC_000016.9:g.57993958G>A , CM000678.1:g.57993958G>A	GRCh37
NC_000016.8:g.56551459G>A	NCBI36
NG_016351.1:g.16063C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.595C>T MANE Select	NP_001288.3:p.Arg199Cys
ENST00000251102.13:c.595C>T MANE Select	ENSP00000251102.8:p.Arg199Cys
NM_001135639.1:c.595C>T	NP_001129111.1:p.Arg199Cys
NM_001135639.2:c.595C>T	NP_001129111.1:p.Arg199Cys
NM_001286130.1:c.577C>T	NP_001273059.1:p.Arg193Cys
NM_001286130.2:c.577C>T	NP_001273059.1:p.Arg193Cys
NM_001297.4:c.595C>T	NP_001288.3:p.Arg199Cys
ENST00000251102.12:c.595C>T	ENSP00000251102.8:p.Arg199Cys
ENST00000311183.8:c.595C>T	ENSP00000311670.4:p.Arg199Cys
ENST00000562761.1:c.595C>T	ENSP00000455708.1:p.Arg199Cys
ENST00000564448.5:c.577C>T	ENSP00000454633.1:p.Arg193Cys
XM_006721134.2:c.595C>T	XP_006721197.1:p.Arg199Cys