Canonical Allele Identifier: CA8083194

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57917404C>T , CM000678.2:g.57917404C>T	GRCh38
NC_000016.9:g.57951308C>T , CM000678.1:g.57951308C>T	GRCh37
NC_000016.8:g.56508809C>T	NCBI36
NG_016351.1:g.58713G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2030G>A MANE Select	NP_001288.3:p.Arg677His
ENST00000251102.13:c.2030G>A MANE Select	ENSP00000251102.8:p.Arg677His
NM_001286130.1:c.2012G>A	NP_001273059.1:p.Arg671His
NM_001286130.2:c.2012G>A	NP_001273059.1:p.Arg671His
NM_001297.4:c.2030G>A	NP_001288.3:p.Arg677His
ENST00000251102.12:c.2030G>A	ENSP00000251102.8:p.Arg677His
ENST00000564448.5:c.2012G>A	ENSP00000454633.1:p.Arg671His
XM_006721134.2:c.2030G>A	XP_006721197.1:p.Arg677His
XM_011522870.1:c.881G>A	XP_011521172.1:p.Arg294His
XM_011522870.2:c.881G>A	XP_011521172.1:p.Arg294His