Canonical Allele Identifier: CA856342774

Gene: CNGB3

Linked Data

• dbSNP Id: rs1457845479
• MyVariant Identifiers: chr8:g.87682829_87682830del (hg19) ; chr8:g.86670601_86670602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670602_86670603del , CM000670.2:g.86670602_86670603del	GRCh38
NC_000008.10:g.87682830_87682831del , CM000670.1:g.87682830_87682831del	GRCh37
NC_000008.9:g.87751946_87751947del	NCBI36
NG_016980.1:g.78074_78075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+342_493+343del MANE Select	ENSP00000316605.5:n.493+342_493+343del
ENST00000680314.1:n.254+342_254+343del
ENST00000681746.1:c.493+342_493+343del	ENSP00000505959.1:n.493+342_493+343del
ENST00000320005.5:c.493+342_493+343del	ENSP00000316605.5:n.493+342_493+343del
NM_019098.4:c.493+342_493+343del	NP_061971.3:n.493+342_493+343del
XM_011517138.1:c.79+342_79+343del	XP_011515440.1:n.79+342_79+343del
XM_011517138.2:c.79+342_79+343del	XP_011515440.1:n.79+342_79+343del
NM_019098.5:c.493+342_493+343del MANE Select	NP_061971.3:n.493+342_493+343del