Canonical Allele Identifier: CA4802587

Gene: NBN

Linked Data

• ClinVar Variation Id: 550305
• ClinVar RCV Id: RCV000665016 ; RCV001014726 ; RCV003163056
• dbSNP Id: rs756831345
• ExAC: 8:90949282 C / A
• gnomAD v2: 8-90949282-C-A
• gnomAD v4: 8-89937054-C-A
• MyVariant Identifiers: chr8:g.90949282C>A (hg19) ; chr8:g.89937054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937054C>A , CM000670.2:g.89937054C>A	GRCh38
NC_000008.10:g.90949282C>A , CM000670.1:g.90949282C>A	GRCh37
NC_000008.9:g.91018458C>A	NCBI36
NG_008860.1:g.52618G>T , LRG_158:g.52618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3626G>T
ENST00000494804.2:n.3508G>T
ENST00000517337.2:c.1960G>T	ENSP00000429971.2:p.Glu654Ter
ENST00000523444.2:c.1960G>T	ENSP00000428252.2:p.Glu654Ter
ENST00000697292.1:c.2206G>T	ENSP00000513229.1:p.Glu736Ter
ENST00000697293.1:c.2257G>T	ENSP00000513230.1:p.Glu753Ter
ENST00000697294.1:c.*1817G>T	ENSP00000513231.1:n.*1817G>T
ENST00000697295.1:c.*1515G>T	ENSP00000513232.1:n.*1515G>T
ENST00000697296.1:c.*1874G>T	ENSP00000513233.1:n.*1874G>T
ENST00000697297.1:n.3991G>T
ENST00000697298.1:c.1960G>T	ENSP00000513234.1:p.Glu654Ter
ENST00000697299.1:c.1960G>T	ENSP00000513235.1:p.Glu654Ter
ENST00000697300.1:c.*1810G>T	ENSP00000513236.1:n.*1810G>T
ENST00000697301.1:c.*1727G>T	ENSP00000513237.1:n.*1727G>T
ENST00000697302.1:c.*1727G>T	ENSP00000513238.1:n.*1727G>T
ENST00000697303.1:c.*1810G>T	ENSP00000513239.1:n.*1810G>T
ENST00000697304.1:c.1894G>T	ENSP00000513240.1:p.Glu632Ter
ENST00000697305.1:n.2473G>T
ENST00000697306.1:c.*2757G>T	ENSP00000513241.1:n.*2757G>T
ENST00000697307.1:c.1981G>T	ENSP00000513242.1:p.Glu661Ter
ENST00000697308.1:c.2137G>T	ENSP00000513243.1:p.Glu713Ter
ENST00000697309.1:c.2185-1442G>T	ENSP00000513244.1:n.2185-1442G>T
ENST00000697310.1:c.2206G>T	ENSP00000513245.1:p.Glu736Ter
ENST00000697311.1:c.*471G>T	ENSP00000513246.1:n.*471G>T
ENST00000697312.1:c.*1659G>T	ENSP00000513247.1:n.*1659G>T
ENST00000697313.1:n.2688-1442G>T
ENST00000697314.1:n.3637-1442G>T
ENST00000697315.1:c.*110G>T	ENSP00000513248.1:n.*110G>T
ENST00000697316.1:n.2327G>T
ENST00000265433.8:c.2206G>T MANE Select	ENSP00000265433.4:p.Glu736Ter
ENST00000265433.7:c.2206G>T	ENSP00000265433.3:p.Glu736Ter
ENST00000396252.6:c.*2079G>T	ENSP00000379551.2:n.*2079G>T
ENST00000409330.5:c.1960G>T	ENSP00000386924.1:p.Glu654Ter
ENST00000474821.1:n.294G>T
ENST00000613033.1:c.316G>T	ENSP00000484487.1:p.Glu106Ter
NM_001024688.2:c.1960G>T	NP_001019859.1:p.Glu654Ter
NM_002485.4:c.2206G>T , LRG_158t1:c.2206G>T	NP_002476.2:p.Glu736Ter
XM_011517044.1:c.2182G>T	XP_011515346.1:p.Glu728Ter
XM_011517045.1:c.1960G>T	XP_011515347.1:p.Glu654Ter
XM_017013460.1:c.1327G>T	XP_016868949.1:p.Glu443Ter
XM_017013462.2:c.1327G>T	XP_016868951.1:p.Glu443Ter
XM_024447163.1:c.1960G>T	XP_024302931.1:p.Glu654Ter
XM_024447164.1:c.1960G>T	XP_024302932.1:p.Glu654Ter
XM_024447165.1:c.1327G>T	XP_024302933.1:p.Glu443Ter
NM_002485.5:c.2206G>T MANE Select	NP_002476.2:p.Glu736Ter
NM_001024688.3:c.1960G>T	NP_001019859.1:p.Glu654Ter