Canonical Allele Identifier: CA1799825646

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643753G= , CM000670.2:g.86643753G=	GRCh38
NC_000008.10:g.87655981G= , CM000670.1:g.87655981G=	GRCh37
NC_000008.9:g.87725097G=	NCBI36
NG_016980.1:g.104923C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1176C= MANE Select	ENSP00000316605.5:p.Asn392=
ENST00000681546.1:n.996C=
ENST00000681746.1:c.1176C=	ENSP00000505959.1:p.Asn392=
ENST00000320005.5:c.1176C=	ENSP00000316605.5:p.Asn392=
NM_019098.4:c.1176C=	NP_061971.3:p.Asn392=
XM_011517138.1:c.762C=	XP_011515440.1:p.Asn254=
XM_011517138.2:c.762C=	XP_011515440.1:p.Asn254=
NM_019098.5:c.1176C= MANE Select	NP_061971.3:p.Asn392=