Canonical Allele Identifier: CA1799868811

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632890A= , CM000670.2:g.86632890A=	GRCh38
NC_000008.10:g.87645118A= , CM000670.1:g.87645118A=	GRCh37
NC_000008.9:g.87714234A=	NCBI36
NG_016980.1:g.115786T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1182T= MANE Select	ENSP00000316605.5:p.Tyr394=
ENST00000681546.1:n.1002T=
ENST00000681746.1:c.1182T=	ENSP00000505959.1:p.Tyr394=
ENST00000320005.5:c.1182T=	ENSP00000316605.5:p.Tyr394=
NM_019098.4:c.1182T=	NP_061971.3:p.Tyr394=
XM_011517138.1:c.768T=	XP_011515440.1:p.Tyr256=
XM_011517138.2:c.768T=	XP_011515440.1:p.Tyr256=
NM_019098.5:c.1182T= MANE Select	NP_061971.3:p.Tyr394=