Canonical Allele Identifier: CA10631620

Gene: CNGB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86654019_86654029delinsA , CM000670.2:g.86654019_86654029delinsA	GRCh38
NC_000008.10:g.87666247_87666257delinsA , CM000670.1:g.87666247_87666257delinsA	GRCh37
NC_000008.9:g.87735363_87735373delinsA	NCBI36
NG_016980.1:g.94647_94657delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.886_896delinsT MANE Select	ENSP00000316605.5:p.Thr296TyrfsTer9
ENST00000681546.1:n.706_716delinsT
ENST00000681746.1:c.886_896delinsT	ENSP00000505959.1:p.Thr296TyrfsTer9
ENST00000320005.5:c.886_896delinsT	ENSP00000316605.5:p.Thr296TyrfsTer9
NM_019098.4:c.886_896delinsT	NP_061971.3:p.Thr296TyrfsTer9
XM_011517138.1:c.472_482delinsT	XP_011515440.1:p.Thr158TyrfsTer9
XM_011517138.2:c.472_482delinsT	XP_011515440.1:p.Thr158TyrfsTer9
NM_019098.5:c.886_896delinsT MANE Select	NP_061971.3:p.Thr296TyrfsTer9