Canonical Allele Identifier: CA2581111339

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2931380
• ClinVar RCV Id: RCV003785082
• gnomAD v4: 12-88062672-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062672T>C , CM000674.2:g.88062672T>C	GRCh38
NC_000012.11:g.88456449T>C , CM000674.1:g.88456449T>C	GRCh37
NC_000012.10:g.86980580T>C	NCBI36
NG_008417.1:g.84545A>G
NG_008417.2:g.84545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6366+20A>G	ENSP00000308021.8:n.6366+20A>G
ENST00000547691.8:c.3641+20A>G
ENST00000552810.6:c.6357+20A>G MANE Select	ENSP00000448012.1:n.6357+20A>G
ENST00000672414.2:c.*4528+20A>G	ENSP00000500729.1:n.*4528+20A>G
ENST00000672647.1:n.4717+20A>G
ENST00000673058.2:c.6357+20A>G	ENSP00000500665.2:n.6357+20A>G
ENST00000674889.1:n.3310+20A>G
ENST00000674971.1:c.6357+20A>G	ENSP00000502194.1:n.6357+20A>G
ENST00000675230.1:c.6336+20A>G	ENSP00000502503.1:n.6336+20A>G
ENST00000675408.1:c.6357+20A>G	ENSP00000502298.1:n.6357+20A>G
ENST00000675476.1:c.7218+20A>G	ENSP00000502161.1:n.7218+20A>G
ENST00000675628.1:n.6584+20A>G
ENST00000675794.1:c.*4528+20A>G	ENSP00000502841.1:n.*4528+20A>G
ENST00000675833.1:c.7125+20A>G	ENSP00000502559.1:n.7125+20A>G
ENST00000675894.1:n.2662+20A>G
ENST00000676074.1:c.6357+20A>G	ENSP00000502079.1:n.6357+20A>G
ENST00000676181.1:n.5285+20A>G
ENST00000676190.1:n.796+20A>G
ENST00000676363.1:n.12083+20A>G
ENST00000309041.11:c.6363+20A>G	ENSP00000308021.7:n.6363+20A>G
ENST00000547691.6:c.3537+20A>G	ENSP00000446905.1:n.3537+20A>G
ENST00000552810.5:c.6357+20A>G	ENSP00000448012.1:n.6357+20A>G
NM_025114.3:c.6357+20A>G	NP_079390.3:n.6357+20A>G
XM_011538756.1:c.7227+20A>G	XP_011537058.1:n.7227+20A>G
XM_011538757.1:c.7227+20A>G	XP_011537059.1:n.7227+20A>G
XM_011538758.1:c.7224+20A>G	XP_011537060.1:n.7224+20A>G
XM_011538759.1:c.7218+20A>G	XP_011537061.1:n.7218+20A>G
XM_011538760.1:c.7227+20A>G	XP_011537062.1:n.7227+20A>G
XM_011538761.1:c.7227+20A>G	XP_011537063.1:n.7227+20A>G
XM_011538762.1:c.6459+20A>G	XP_011537064.1:n.6459+20A>G
XM_011538763.1:c.6366+20A>G	XP_011537065.1:n.6366+20A>G
XM_011538766.1:c.5688+20A>G	XP_011537068.1:n.5688+20A>G
XR_945163.1:n.967+5652T>C
XM_011538756.3:c.7227+20A>G	XP_011537058.1:n.7227+20A>G
XM_011538757.3:c.7227+20A>G	XP_011537059.1:n.7227+20A>G
XM_011538758.3:c.7224+20A>G	XP_011537060.1:n.7224+20A>G
XM_011538759.2:c.7218+20A>G	XP_011537061.1:n.7218+20A>G
XM_011538760.2:c.7227+20A>G	XP_011537062.1:n.7227+20A>G
XM_011538761.2:c.7227+20A>G	XP_011537063.1:n.7227+20A>G
XM_011538762.3:c.6459+20A>G	XP_011537064.1:n.6459+20A>G
XM_011538763.3:c.6366+20A>G	XP_011537065.1:n.6366+20A>G
XM_011538766.3:c.5688+20A>G	XP_011537068.1:n.5688+20A>G
XM_017019980.2:c.7218+20A>G	XP_016875469.1:n.7218+20A>G
XM_017019981.2:c.7218+20A>G	XP_016875470.1:n.7218+20A>G
XM_017019982.1:c.7227+20A>G	XP_016875471.1:n.7227+20A>G
XM_017019983.2:c.6345+20A>G	XP_016875472.1:n.6345+20A>G
XR_001748869.1:n.7562+20A>G
XR_001748870.2:n.7562+20A>G
NM_025114.4:c.6357+20A>G MANE Select	NP_079390.3:n.6357+20A>G