Canonical Allele Identifier: CA160999

Gene: NBN

Linked Data

• ClinVar Variation Id: 127879
• ClinVar RCV Id: RCV000115805 ; RCV000168183 ; RCV000121624 ; RCV000656925 ; RCV003952554
• dbSNP Id: rs61754967
• ExAC: 8:90982730 G / A
• gnomAD v2: 8-90982730-G-A
• gnomAD v3: 8-89970502-G-A
• gnomAD v4: 8-89970502-G-A
• MyVariant Identifiers: chr8:g.90982730G>A (hg19) ; chr8:g.89970502G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970502G>A , CM000670.2:g.89970502G>A	GRCh38
NC_000008.10:g.90982730G>A , CM000670.1:g.90982730G>A	GRCh37
NC_000008.9:g.91051906G>A	NCBI36
NG_008860.1:g.19170C>T , LRG_158:g.19170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2060C>T
ENST00000517337.2:c.512C>T	ENSP00000429971.2:p.Thr171Ile
ENST00000523444.2:c.512C>T	ENSP00000428252.2:p.Thr171Ile
ENST00000697292.1:c.758C>T	ENSP00000513229.1:p.Thr253Ile
ENST00000697293.1:c.758C>T	ENSP00000513230.1:p.Thr253Ile
ENST00000697294.1:c.*369C>T	ENSP00000513231.1:n.*369C>T
ENST00000697295.1:c.*67C>T	ENSP00000513232.1:n.*67C>T
ENST00000697296.1:c.*426C>T	ENSP00000513233.1:n.*426C>T
ENST00000697297.1:n.2543C>T
ENST00000697298.1:c.512C>T	ENSP00000513234.1:p.Thr171Ile
ENST00000697299.1:c.512C>T	ENSP00000513235.1:p.Thr171Ile
ENST00000697300.1:c.*362C>T	ENSP00000513236.1:n.*362C>T
ENST00000697301.1:c.*279C>T	ENSP00000513237.1:n.*279C>T
ENST00000697302.1:c.*279C>T	ENSP00000513238.1:n.*279C>T
ENST00000697303.1:c.*362C>T	ENSP00000513239.1:n.*362C>T
ENST00000697304.1:c.585-5995C>T	ENSP00000513240.1:n.585-5995C>T
ENST00000697306.1:c.480+10232C>T	ENSP00000513241.1:n.480+10232C>T
ENST00000697307.1:c.758C>T	ENSP00000513242.1:p.Thr253Ile
ENST00000697308.1:c.758C>T	ENSP00000513243.1:p.Thr253Ile
ENST00000697309.1:c.758C>T	ENSP00000513244.1:p.Thr253Ile
ENST00000697310.1:c.758C>T	ENSP00000513245.1:p.Thr253Ile
ENST00000697311.1:c.758C>T	ENSP00000513246.1:p.Thr253Ile
ENST00000697312.1:c.*156C>T	ENSP00000513247.1:n.*156C>T
ENST00000697313.1:n.2549C>T
ENST00000697314.1:n.2549C>T
ENST00000697315.1:c.758C>T	ENSP00000513248.1:p.Thr253Ile
ENST00000697316.1:n.879C>T
ENST00000697317.1:n.868C>T
ENST00000697318.1:n.870C>T
ENST00000265433.8:c.758C>T MANE Select	ENSP00000265433.4:p.Thr253Ile
ENST00000265433.7:c.758C>T	ENSP00000265433.3:p.Thr253Ile
ENST00000396252.6:c.*631C>T	ENSP00000379551.2:n.*631C>T
ENST00000409330.5:c.512C>T	ENSP00000386924.1:p.Thr171Ile
NM_001024688.2:c.512C>T	NP_001019859.1:p.Thr171Ile
NM_002485.4:c.758C>T , LRG_158t1:c.758C>T	NP_002476.2:p.Thr253Ile
XM_011517044.1:c.734C>T	XP_011515346.1:p.Thr245Ile
XM_011517045.1:c.512C>T	XP_011515347.1:p.Thr171Ile
XM_011517046.1:c.758C>T	XP_011515348.1:p.Thr253Ile
XR_928335.1:n.895C>T
XM_017013460.1:c.-122C>T	XP_016868949.1:n.-122C>T
XM_017013462.2:c.-122C>T	XP_016868951.1:n.-122C>T
XM_024447163.1:c.512C>T	XP_024302931.1:p.Thr171Ile
XM_024447164.1:c.512C>T	XP_024302932.1:p.Thr171Ile
XM_024447165.1:c.-122C>T	XP_024302933.1:n.-122C>T
NM_002485.5:c.758C>T MANE Select	NP_002476.2:p.Thr253Ile
NM_001024688.3:c.512C>T	NP_001019859.1:p.Thr171Ile