Canonical Allele Identifier: CA1116229308

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821640698
• gnomAD v3: 8-86575505-G-GCTAATTGTTCT
• gnomAD v4: 8-86575505-G-GCTAATTGTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575505_86575506insCTAATTGTTCT , CM000670.2:g.86575505_86575506insCTAATTGTTCT	GRCh38
NC_000008.10:g.87587733_87587734insCTAATTGTTCT , CM000670.1:g.87587733_87587734insCTAATTGTTCT	GRCh37
NC_000008.9:g.87656849_87656850insCTAATTGTTCT	NCBI36
NG_016980.1:g.173170_173171insAGAACAATTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*298_*299insAGAACAATTAG MANE Select	ENSP00000316605.5:n.*298_*299insAGAACAATTAG
ENST00000681546.1:n.2548_2549insAGAACAATTAG
ENST00000681746.1:c.*1139_*1140insAGAACAATTAG	ENSP00000505959.1:n.*1139_*1140insAGAACAATTAG
ENST00000320005.5:c.*298_*299insAGAACAATTAG	ENSP00000316605.5:n.*298_*299insAGAACAATTAG
ENST00000517327.5:c.276+3183_276+3184insAGAACAATTAG	ENSP00000428329.1:n.276+3183_276+3184insAGAACAATTAG
NM_019098.4:c.*298_*299insAGAACAATTAG	NP_061971.3:n.*298_*299insAGAACAATTAG
XM_011517138.1:c.*298_*299insAGAACAATTAG	XP_011515440.1:n.*298_*299insAGAACAATTAG
XM_011517138.2:c.*298_*299insAGAACAATTAG	XP_011515440.1:n.*298_*299insAGAACAATTAG
NM_019098.5:c.*298_*299insAGAACAATTAG MANE Select	NP_061971.3:n.*298_*299insAGAACAATTAG