Canonical Allele Identifier: CA4802704

Gene: NBN

Linked Data

• ClinVar Variation Id: 855934
• ClinVar RCV Id: RCV001061291
• dbSNP Id: rs754706758
• ExAC: 8:90965770 G / A
• gnomAD v2: 8-90965770-G-A
• gnomAD v4: 8-89953542-G-A
• MyVariant Identifiers: chr8:g.90965770G>A (hg19) ; chr8:g.89953542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953542G>A , CM000670.2:g.89953542G>A	GRCh38
NC_000008.10:g.90965770G>A , CM000670.1:g.90965770G>A	GRCh37
NC_000008.9:g.91034946G>A	NCBI36
NG_008860.1:g.36130C>T , LRG_158:g.36130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2849C>T
ENST00000517337.2:c.1301C>T	ENSP00000429971.2:p.Thr434Ile
ENST00000523444.2:c.1301C>T	ENSP00000428252.2:p.Thr434Ile
ENST00000697292.1:c.1547C>T	ENSP00000513229.1:p.Thr516Ile
ENST00000697293.1:c.1547C>T	ENSP00000513230.1:p.Thr516Ile
ENST00000697294.1:c.*1158C>T	ENSP00000513231.1:n.*1158C>T
ENST00000697295.1:c.*856C>T	ENSP00000513232.1:n.*856C>T
ENST00000697296.1:c.*1215C>T	ENSP00000513233.1:n.*1215C>T
ENST00000697297.1:n.3332C>T
ENST00000697298.1:c.1301C>T	ENSP00000513234.1:p.Thr434Ile
ENST00000697299.1:c.1301C>T	ENSP00000513235.1:p.Thr434Ile
ENST00000697300.1:c.*1151C>T	ENSP00000513236.1:n.*1151C>T
ENST00000697301.1:c.*1068C>T	ENSP00000513237.1:n.*1068C>T
ENST00000697302.1:c.*1068C>T	ENSP00000513238.1:n.*1068C>T
ENST00000697303.1:c.*1151C>T	ENSP00000513239.1:n.*1151C>T
ENST00000697304.1:c.1235C>T	ENSP00000513240.1:p.Thr412Ile
ENST00000697306.1:c.*547C>T	ENSP00000513241.1:n.*547C>T
ENST00000697307.1:c.1547C>T	ENSP00000513242.1:p.Thr516Ile
ENST00000697308.1:c.1547C>T	ENSP00000513243.1:p.Thr516Ile
ENST00000697309.1:c.1547C>T	ENSP00000513244.1:p.Thr516Ile
ENST00000697310.1:c.1547C>T	ENSP00000513245.1:p.Thr516Ile
ENST00000697311.1:c.1547C>T	ENSP00000513246.1:p.Thr516Ile
ENST00000697312.1:c.*945C>T	ENSP00000513247.1:n.*945C>T
ENST00000697313.1:n.2687+16822C>T
ENST00000697314.1:n.3338C>T
ENST00000697315.1:c.1547C>T	ENSP00000513248.1:p.Thr516Ile
ENST00000697316.1:n.1668C>T
ENST00000697317.1:n.1657C>T
ENST00000697318.1:n.1659C>T
ENST00000265433.8:c.1547C>T MANE Select	ENSP00000265433.4:p.Thr516Ile
ENST00000265433.7:c.1547C>T	ENSP00000265433.3:p.Thr516Ile
ENST00000396252.6:c.*1420C>T	ENSP00000379551.2:n.*1420C>T
ENST00000409330.5:c.1301C>T	ENSP00000386924.1:p.Thr434Ile
NM_001024688.2:c.1301C>T	NP_001019859.1:p.Thr434Ile
NM_002485.4:c.1547C>T , LRG_158t1:c.1547C>T	NP_002476.2:p.Thr516Ile
XM_011517044.1:c.1523C>T	XP_011515346.1:p.Thr508Ile
XM_011517045.1:c.1301C>T	XP_011515347.1:p.Thr434Ile
XR_928335.1:n.1686C>T
XM_017013460.1:c.668C>T	XP_016868949.1:p.Thr223Ile
XM_017013462.2:c.668C>T	XP_016868951.1:p.Thr223Ile
XM_024447163.1:c.1301C>T	XP_024302931.1:p.Thr434Ile
XM_024447164.1:c.1301C>T	XP_024302932.1:p.Thr434Ile
XM_024447165.1:c.668C>T	XP_024302933.1:p.Thr223Ile
NM_002485.5:c.1547C>T MANE Select	NP_002476.2:p.Thr516Ile
NM_001024688.3:c.1301C>T	NP_001019859.1:p.Thr434Ile