Canonical Allele Identifier: CA1799783947

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575815C= , CM000670.2:g.86575815C=	GRCh38
NC_000008.10:g.87588043C= , CM000670.1:g.87588043C=	GRCh37
NC_000008.9:g.87657159C=	NCBI36
NG_016980.1:g.172861G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2419G= MANE Select	ENSP00000316605.5:p.Ala807=
ENST00000681546.1:n.2239G=
ENST00000681746.1:c.*830G=	ENSP00000505959.1:n.*830G=
ENST00000320005.5:c.2419G=	ENSP00000316605.5:p.Ala807=
ENST00000517327.5:c.276+2874G=	ENSP00000428329.1:n.276+2874G=
NM_019098.4:c.2419G=	NP_061971.3:p.Ala807=
XM_011517138.1:c.2005G=	XP_011515440.1:p.Ala669=
XM_011517138.2:c.2005G=	XP_011515440.1:p.Ala669=
NM_019098.5:c.2419G= MANE Select	NP_061971.3:p.Ala807=