Canonical Allele Identifier: CA396062747

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57915259C>A , CM000678.2:g.57915259C>A	GRCh38
NC_000016.9:g.57949163C>A , CM000678.1:g.57949163C>A	GRCh37
NC_000016.8:g.56506664C>A	NCBI36
NG_016351.1:g.60858G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2294G>T MANE Select	NP_001288.3:p.Arg765Leu
ENST00000251102.13:c.2294G>T MANE Select	ENSP00000251102.8:p.Arg765Leu
NM_001286130.1:c.2276G>T	NP_001273059.1:p.Arg759Leu
NM_001286130.2:c.2276G>T	NP_001273059.1:p.Arg759Leu
NM_001297.4:c.2294G>T	NP_001288.3:p.Arg765Leu
ENST00000251102.12:c.2294G>T	ENSP00000251102.8:p.Arg765Leu
ENST00000564448.5:c.2276G>T	ENSP00000454633.1:p.Arg759Leu
XM_006721134.2:c.2294G>T	XP_006721197.1:p.Arg765Leu
XM_011522870.1:c.1145G>T	XP_011521172.1:p.Arg382Leu
XM_011522870.2:c.1145G>T	XP_011521172.1:p.Arg382Leu