Canonical Allele Identifier: CA371676470

Gene: NBN

Linked Data

• ClinVar Variation Id: 1332498
• ClinVar RCV Id: RCV001805544 ; RCV002542406
• dbSNP Id: rs2129647636
• MyVariant Identifiers: chr8:g.90958441T>G (hg19) ; chr8:g.89946213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946213T>G , CM000670.2:g.89946213T>G	GRCh38
NC_000008.10:g.90958441T>G , CM000670.1:g.90958441T>G	GRCh37
NC_000008.9:g.91027617T>G	NCBI36
NG_008860.1:g.43459A>C , LRG_158:g.43459A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3299A>C
ENST00000517337.2:c.1751A>C	ENSP00000429971.2:p.Asn584Thr
ENST00000523444.2:c.1751A>C	ENSP00000428252.2:p.Asn584Thr
ENST00000697292.1:c.1997A>C	ENSP00000513229.1:p.Asn666Thr
ENST00000697293.1:c.1997A>C	ENSP00000513230.1:p.Asn666Thr
ENST00000697294.1:c.*1608A>C	ENSP00000513231.1:n.*1608A>C
ENST00000697295.1:c.*1306A>C	ENSP00000513232.1:n.*1306A>C
ENST00000697296.1:c.*1665A>C	ENSP00000513233.1:n.*1665A>C
ENST00000697297.1:n.3782A>C
ENST00000697298.1:c.1751A>C	ENSP00000513234.1:p.Asn584Thr
ENST00000697299.1:c.1751A>C	ENSP00000513235.1:p.Asn584Thr
ENST00000697300.1:c.*1601A>C	ENSP00000513236.1:n.*1601A>C
ENST00000697301.1:c.*1518A>C	ENSP00000513237.1:n.*1518A>C
ENST00000697302.1:c.*1518A>C	ENSP00000513238.1:n.*1518A>C
ENST00000697303.1:c.*1601A>C	ENSP00000513239.1:n.*1601A>C
ENST00000697304.1:c.1685A>C	ENSP00000513240.1:p.Asn562Thr
ENST00000697306.1:c.*2548A>C	ENSP00000513241.1:n.*2548A>C
ENST00000697307.1:c.1846-2847A>C	ENSP00000513242.1:n.1846-2847A>C
ENST00000697308.1:c.1928A>C	ENSP00000513243.1:p.Asn643Thr
ENST00000697309.1:c.1997A>C	ENSP00000513244.1:p.Asn666Thr
ENST00000697310.1:c.1997A>C	ENSP00000513245.1:p.Asn666Thr
ENST00000697311.1:c.1997A>C	ENSP00000513246.1:p.Asn666Thr
ENST00000697312.1:c.*1395A>C	ENSP00000513247.1:n.*1395A>C
ENST00000697313.1:n.2688-10601A>C
ENST00000697314.1:n.3636+7031A>C
ENST00000697315.1:c.1997A>C	ENSP00000513248.1:p.Asn666Thr
ENST00000697316.1:n.2118A>C
ENST00000697317.1:n.2088A>C
ENST00000265433.8:c.1997A>C MANE Select	ENSP00000265433.4:p.Asn666Thr
ENST00000265433.7:c.1997A>C	ENSP00000265433.3:p.Asn666Thr
ENST00000396252.6:c.*1870A>C	ENSP00000379551.2:n.*1870A>C
ENST00000409330.5:c.1751A>C	ENSP00000386924.1:p.Asn584Thr
ENST00000520325.1:n.413A>C
ENST00000613033.1:c.180+1611A>C	ENSP00000484487.1:n.180+1611A>C
NM_001024688.2:c.1751A>C	NP_001019859.1:p.Asn584Thr
NM_002485.4:c.1997A>C , LRG_158t1:c.1997A>C	NP_002476.2:p.Asn666Thr
XM_011517044.1:c.1973A>C	XP_011515346.1:p.Asn658Thr
XM_011517045.1:c.1751A>C	XP_011515347.1:p.Asn584Thr
XM_017013460.1:c.1118A>C	XP_016868949.1:p.Asn373Thr
XM_017013462.2:c.1118A>C	XP_016868951.1:p.Asn373Thr
XM_024447163.1:c.1751A>C	XP_024302931.1:p.Asn584Thr
XM_024447164.1:c.1751A>C	XP_024302932.1:p.Asn584Thr
XM_024447165.1:c.1118A>C	XP_024302933.1:p.Asn373Thr
NM_002485.5:c.1997A>C MANE Select	NP_002476.2:p.Asn666Thr
NM_001024688.3:c.1751A>C	NP_001019859.1:p.Asn584Thr