Canonical Allele Identifier: CA2697549977

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2755784
• ClinVar RCV Id: RCV003571474

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576076del , CM000670.2:g.86576076del	GRCh38
NC_000008.10:g.87588304del , CM000670.1:g.87588304del	GRCh37
NC_000008.9:g.87657420del	NCBI36
NG_016980.1:g.172600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2158del MANE Select	ENSP00000316605.5:p.Gln720LysfsTer?
ENST00000681546.1:n.1978del
ENST00000681746.1:c.*569del	ENSP00000505959.1:n.*569del
ENST00000320005.5:c.2158del	ENSP00000316605.5:p.Gln720LysfsTer?
ENST00000517327.5:c.276+2613del	ENSP00000428329.1:n.276+2613del
NM_019098.4:c.2158del	NP_061971.3:p.Gln720LysfsTer?
XM_011517138.1:c.1744del	XP_011515440.1:p.Gln582LysfsTer?
XM_011517138.2:c.1744del	XP_011515440.1:p.Gln582LysfsTer?
NM_019098.5:c.2158del MANE Select	NP_061971.3:p.Gln720LysfsTer?