Canonical Allele Identifier: CA606445521

Gene: CEP290

Linked Data

• ClinVar Variation Id: 530923
• ClinVar RCV Id: RCV000637004 ; RCV004544841
• dbSNP Id: rs1413934261
• gnomAD v2: 12-88504975-A-G
• gnomAD v3: 12-88111198-A-G
• gnomAD v4: 12-88111198-A-G
• MyVariant Identifiers: chr12:g.88504975A>G (hg19) ; chr12:g.88111198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88111198A>G , CM000674.2:g.88111198A>G	GRCh38
NC_000012.11:g.88504975A>G , CM000674.1:g.88504975A>G	GRCh37
NC_000012.10:g.87029106A>G	NCBI36
NG_008417.1:g.36019T>C
NG_008417.2:g.36019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2367+4T>C	ENSP00000308021.8:n.2367+4T>C
ENST00000552810.6:c.2367+4T>C MANE Select	ENSP00000448012.1:n.2367+4T>C
ENST00000672414.2:c.*538+4T>C	ENSP00000500729.1:n.*538+4T>C
ENST00000673058.2:c.2367+4T>C	ENSP00000500665.2:n.2367+4T>C
ENST00000674971.1:c.2367+4T>C	ENSP00000502194.1:n.2367+4T>C
ENST00000675230.1:c.2346+4T>C	ENSP00000502503.1:n.2346+4T>C
ENST00000675408.1:c.2367+4T>C	ENSP00000502298.1:n.2367+4T>C
ENST00000675476.1:c.3228+4T>C	ENSP00000502161.1:n.3228+4T>C
ENST00000675628.1:n.2594+4T>C
ENST00000675794.1:c.*538+4T>C	ENSP00000502841.1:n.*538+4T>C
ENST00000675833.1:c.3135+4T>C	ENSP00000502559.1:n.3135+4T>C
ENST00000676074.1:c.2367+4T>C	ENSP00000502079.1:n.2367+4T>C
ENST00000676363.1:n.4430+4T>C
ENST00000676448.1:c.*280+4T>C	ENSP00000501987.1:n.*280+4T>C
ENST00000309041.11:c.2373+4T>C	ENSP00000308021.7:n.2373+4T>C
ENST00000397838.7:c.2373+4T>C	ENSP00000380938.4:n.2373+4T>C
ENST00000552810.5:c.2367+4T>C	ENSP00000448012.1:n.2367+4T>C
ENST00000604024.5:c.1626+4T>C	ENSP00000473863.1:n.1626+4T>C
NM_025114.3:c.2367+4T>C	NP_079390.3:n.2367+4T>C
XM_011538756.1:c.3228+4T>C	XP_011537058.1:n.3228+4T>C
XM_011538757.1:c.3228+4T>C	XP_011537059.1:n.3228+4T>C
XM_011538758.1:c.3228+4T>C	XP_011537060.1:n.3228+4T>C
XM_011538759.1:c.3228+4T>C	XP_011537061.1:n.3228+4T>C
XM_011538760.1:c.3228+4T>C	XP_011537062.1:n.3228+4T>C
XM_011538761.1:c.3228+4T>C	XP_011537063.1:n.3228+4T>C
XM_011538762.1:c.2460+4T>C	XP_011537064.1:n.2460+4T>C
XM_011538763.1:c.2367+4T>C	XP_011537065.1:n.2367+4T>C
XM_011538764.1:c.3228+4T>C	XP_011537066.1:n.3228+4T>C
XM_011538765.1:c.3228+4T>C	XP_011537067.1:n.3228+4T>C
XM_011538766.1:c.1689+4T>C	XP_011537068.1:n.1689+4T>C
XM_011538756.3:c.3228+4T>C	XP_011537058.1:n.3228+4T>C
XM_011538757.3:c.3228+4T>C	XP_011537059.1:n.3228+4T>C
XM_011538758.3:c.3228+4T>C	XP_011537060.1:n.3228+4T>C
XM_011538759.2:c.3228+4T>C	XP_011537061.1:n.3228+4T>C
XM_011538760.2:c.3228+4T>C	XP_011537062.1:n.3228+4T>C
XM_011538761.2:c.3228+4T>C	XP_011537063.1:n.3228+4T>C
XM_011538762.3:c.2460+4T>C	XP_011537064.1:n.2460+4T>C
XM_011538763.3:c.2367+4T>C	XP_011537065.1:n.2367+4T>C
XM_011538764.3:c.3228+4T>C	XP_011537066.1:n.3228+4T>C
XM_011538765.3:c.3228+4T>C	XP_011537067.1:n.3228+4T>C
XM_011538766.3:c.1689+4T>C	XP_011537068.1:n.1689+4T>C
XM_017019980.2:c.3228+4T>C	XP_016875469.1:n.3228+4T>C
XM_017019981.2:c.3228+4T>C	XP_016875470.1:n.3228+4T>C
XM_017019982.1:c.3228+4T>C	XP_016875471.1:n.3228+4T>C
XM_017019983.2:c.2346+4T>C	XP_016875472.1:n.2346+4T>C
XR_001748869.1:n.3572+4T>C
XR_001748870.2:n.3572+4T>C
NM_025114.4:c.2367+4T>C MANE Select	NP_079390.3:n.2367+4T>C