Canonical Allele Identifier: CA1799825780

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643812A= , CM000670.2:g.86643812A=	GRCh38
NC_000008.10:g.87656040A= , CM000670.1:g.87656040A=	GRCh37
NC_000008.9:g.87725156A=	NCBI36
NG_016980.1:g.104864T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1117T= MANE Select	ENSP00000316605.5:p.Trp373=
ENST00000681546.1:n.937T=
ENST00000681746.1:c.1117T=	ENSP00000505959.1:p.Trp373=
ENST00000320005.5:c.1117T=	ENSP00000316605.5:p.Trp373=
NM_019098.4:c.1117T=	NP_061971.3:p.Trp373=
XM_011517138.1:c.703T=	XP_011515440.1:p.Trp235=
XM_011517138.2:c.703T=	XP_011515440.1:p.Trp235=
NM_019098.5:c.1117T= MANE Select	NP_061971.3:p.Trp373=