Canonical Allele Identifier: CA8083714

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57959936C>T , CM000678.2:g.57959936C>T	GRCh38
NC_000016.9:g.57993840C>T , CM000678.1:g.57993840C>T	GRCh37
NC_000016.8:g.56551341C>T	NCBI36
NG_016351.1:g.16181G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.713G>A MANE Select	NP_001288.3:p.Gly238Asp
ENST00000251102.13:c.713G>A MANE Select	ENSP00000251102.8:p.Gly238Asp
NM_001135639.1:c.713G>A	NP_001129111.1:p.Gly238Asp
NM_001135639.2:c.713G>A	NP_001129111.1:p.Gly238Asp
NM_001286130.1:c.695G>A	NP_001273059.1:p.Gly232Asp
NM_001286130.2:c.695G>A	NP_001273059.1:p.Gly232Asp
NM_001297.4:c.713G>A	NP_001288.3:p.Gly238Asp
ENST00000251102.12:c.713G>A	ENSP00000251102.8:p.Gly238Asp
ENST00000311183.8:c.713G>A	ENSP00000311670.4:p.Gly238Asp
ENST00000564448.5:c.695G>A	ENSP00000454633.1:p.Gly232Asp
XM_006721134.2:c.713G>A	XP_006721197.1:p.Gly238Asp