Canonical Allele Identifier: CA652506300

Gene: CNGB3

Linked Data

• COSMIC: COSN16973219

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574460_86574461insC , CM000670.2:g.86574460_86574461insC	GRCh38
NC_000008.10:g.87586688_87586689insC , CM000670.1:g.87586688_87586689insC	GRCh37
NC_000008.9:g.87655804_87655805insC	NCBI36
NG_016980.1:g.174215_174216insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1343_*1344insG MANE Select	ENSP00000316605.5:n.*1343_*1344insG
ENST00000681546.1:n.3593_3594insG
ENST00000681746.1:c.*2184_*2185insG	ENSP00000505959.1:n.*2184_*2185insG
ENST00000320005.5:c.*1343_*1344insG	ENSP00000316605.5:n.*1343_*1344insG
ENST00000517327.5:c.276+4228_276+4229insG	ENSP00000428329.1:n.276+4228_276+4229insG...
NM_019098.4:c.*1343_*1344insG	NP_061971.3:n.*1343_*1344insG
XM_011517138.1:c.*1343_*1344insG	XP_011515440.1:n.*1343_*1344insG
XM_011517138.2:c.*1343_*1344insG	XP_011515440.1:n.*1343_*1344insG
NM_019098.5:c.*1343_*1344insG MANE Select	NP_061971.3:n.*1343_*1344insG