Canonical Allele Identifier: CA371658666

Gene: NBN

Linked Data

• ClinVar Variation Id: 856373
• ClinVar RCV Id: RCV001061819 ; RCV002411577 ; RCV002509604
• dbSNP Id: rs1811461476
• MyVariant Identifiers: chr8:g.90982706T>A (hg19) ; chr8:g.89970478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970478T>A , CM000670.2:g.89970478T>A	GRCh38
NC_000008.10:g.90982706T>A , CM000670.1:g.90982706T>A	GRCh37
NC_000008.9:g.91051882T>A	NCBI36
NG_008860.1:g.19194A>T , LRG_158:g.19194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2084A>T
ENST00000517337.2:c.536A>T	ENSP00000429971.2:p.Asn179Ile
ENST00000523444.2:c.536A>T	ENSP00000428252.2:p.Asn179Ile
ENST00000697292.1:c.782A>T	ENSP00000513229.1:p.Asn261Ile
ENST00000697293.1:c.782A>T	ENSP00000513230.1:p.Asn261Ile
ENST00000697294.1:c.*393A>T	ENSP00000513231.1:n.*393A>T
ENST00000697295.1:c.*91A>T	ENSP00000513232.1:n.*91A>T
ENST00000697296.1:c.*450A>T	ENSP00000513233.1:n.*450A>T
ENST00000697297.1:n.2567A>T
ENST00000697298.1:c.536A>T	ENSP00000513234.1:p.Asn179Ile
ENST00000697299.1:c.536A>T	ENSP00000513235.1:p.Asn179Ile
ENST00000697300.1:c.*386A>T	ENSP00000513236.1:n.*386A>T
ENST00000697301.1:c.*303A>T	ENSP00000513237.1:n.*303A>T
ENST00000697302.1:c.*303A>T	ENSP00000513238.1:n.*303A>T
ENST00000697303.1:c.*386A>T	ENSP00000513239.1:n.*386A>T
ENST00000697304.1:c.585-5971A>T	ENSP00000513240.1:n.585-5971A>T
ENST00000697306.1:c.480+10256A>T	ENSP00000513241.1:n.480+10256A>T
ENST00000697307.1:c.782A>T	ENSP00000513242.1:p.Asn261Ile
ENST00000697308.1:c.782A>T	ENSP00000513243.1:p.Asn261Ile
ENST00000697309.1:c.782A>T	ENSP00000513244.1:p.Asn261Ile
ENST00000697310.1:c.782A>T	ENSP00000513245.1:p.Asn261Ile
ENST00000697311.1:c.782A>T	ENSP00000513246.1:p.Asn261Ile
ENST00000697312.1:c.*180A>T	ENSP00000513247.1:n.*180A>T
ENST00000697313.1:n.2573A>T
ENST00000697314.1:n.2573A>T
ENST00000697315.1:c.782A>T	ENSP00000513248.1:p.Asn261Ile
ENST00000697316.1:n.903A>T
ENST00000697317.1:n.892A>T
ENST00000697318.1:n.894A>T
ENST00000265433.8:c.782A>T MANE Select	ENSP00000265433.4:p.Asn261Ile
ENST00000265433.7:c.782A>T	ENSP00000265433.3:p.Asn261Ile
ENST00000396252.6:c.*655A>T	ENSP00000379551.2:n.*655A>T
ENST00000409330.5:c.536A>T	ENSP00000386924.1:p.Asn179Ile
NM_001024688.2:c.536A>T	NP_001019859.1:p.Asn179Ile
NM_002485.4:c.782A>T , LRG_158t1:c.782A>T	NP_002476.2:p.Asn261Ile
XM_011517044.1:c.758A>T	XP_011515346.1:p.Asn253Ile
XM_011517045.1:c.536A>T	XP_011515347.1:p.Asn179Ile
XM_011517046.1:c.782A>T	XP_011515348.1:p.Asn261Ile
XR_928335.1:n.919A>T
XM_017013460.1:c.-98A>T	XP_016868949.1:n.-98A>T
XM_017013462.2:c.-98A>T	XP_016868951.1:n.-98A>T
XM_024447163.1:c.536A>T	XP_024302931.1:p.Asn179Ile
XM_024447164.1:c.536A>T	XP_024302932.1:p.Asn179Ile
XM_024447165.1:c.-98A>T	XP_024302933.1:n.-98A>T
NM_002485.5:c.782A>T MANE Select	NP_002476.2:p.Asn261Ile
NM_001024688.3:c.536A>T	NP_001019859.1:p.Asn179Ile