Canonical Allele Identifier: CA1799784430

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576019C= , CM000670.2:g.86576019C=	GRCh38
NC_000008.10:g.87588247C= , CM000670.1:g.87588247C=	GRCh37
NC_000008.9:g.87657363C=	NCBI36
NG_016980.1:g.172657G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2215G= MANE Select	ENSP00000316605.5:p.Asp739=
ENST00000681546.1:n.2035G=
ENST00000681746.1:c.*626G=	ENSP00000505959.1:n.*626G=
ENST00000320005.5:c.2215G=	ENSP00000316605.5:p.Asp739=
ENST00000517327.5:c.276+2670G=	ENSP00000428329.1:n.276+2670G=
NM_019098.4:c.2215G=	NP_061971.3:p.Asp739=
XM_011517138.1:c.1801G=	XP_011515440.1:p.Asp601=
XM_011517138.2:c.1801G=	XP_011515440.1:p.Asp601=
NM_019098.5:c.2215G= MANE Select	NP_061971.3:p.Asp739=