Canonical Allele Identifier: CA221643

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57897913C>T , CM000678.2:g.57897913C>T	GRCh38
NC_000016.9:g.57931817C>T , CM000678.1:g.57931817C>T	GRCh37
NC_000016.8:g.56489318C>T	NCBI36
NG_016351.1:g.78204G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2978G>A MANE Select	NP_001288.3:p.Gly993Glu
ENST00000251102.13:c.2978G>A MANE Select	ENSP00000251102.8:p.Gly993Glu
NM_001286130.1:c.2960G>A	NP_001273059.1:p.Gly987Glu
NM_001286130.2:c.2960G>A	NP_001273059.1:p.Gly987Glu
NM_001297.4:c.2978G>A	NP_001288.3:p.Gly993Glu
ENST00000251102.12:c.2978G>A	ENSP00000251102.8:p.Gly993Glu
ENST00000564448.5:c.2960G>A	ENSP00000454633.1:p.Gly987Glu
ENST00000565942.1:c.24G>A
ENST00000569643.1:n.635G>A
XM_006721134.2:c.2978G>A	XP_006721197.1:p.Gly993Glu
XM_011522870.1:c.1829G>A	XP_011521172.1:p.Gly610Glu
XM_011522870.2:c.1829G>A	XP_011521172.1:p.Gly610Glu