Canonical Allele Identifier: CA160981

Gene: NBN

Linked Data

• ClinVar Variation Id: 6946
• ClinVar RCV Id: RCV000007360 ; RCV000007361 ; RCV000115797 ; RCV000197512 ; RCV000121618 ; RCV000490266 ; RCV000589577 ; RCV001030566 ; RCV001358233 ; RCV001262350 ; RCV003492288 ; RCV003891430
• dbSNP Id: rs61754966
• ExAC: 8:90990521 T / C
• gnomAD v2: 8-90990521-T-C
• gnomAD v3: 8-89978293-T-C
• gnomAD v4: 8-89978293-T-C
• MyVariant Identifiers: chr8:g.90990521T>C (hg19) ; chr8:g.89978293T>C (hg38)
• PubMed: PMID:11325820 ; PMID:14559852 ; PMID:15338273 ; PMID:16474176 ; PMID:17695489 ; PMID:17899368 ; PMID:18049891 ; PMID:18280732 ; PMID:19393249 ; PMID:19452044 ; PMID:19523210 ; PMID:19813148 ; PMID:19908051 ; PMID:21212067 ; PMID:21698754 ; PMID:22131123 ; PMID:22373003 ; PMID:23317186 ; PMID:23555315 ; PMID:23891399 ; PMID:24093751 ; PMID:24113799 ; PMID:24728327 ; PMID:24830725 ; PMID:25619955 ; PMID:25712764 ; PMID:25980754 ; PMID:26083025 ; PMID:26315354 ; PMID:26722329 ; PMID:27153395 ; PMID:27616075 ; PMID:27621404 ; PMID:28376765

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978293T>C , CM000670.2:g.89978293T>C	GRCh38
NC_000008.10:g.90990521T>C , CM000670.1:g.90990521T>C	GRCh37
NC_000008.9:g.91059697T>C	NCBI36
NG_008860.1:g.11379A>G , LRG_158:g.11379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1813A>G
ENST00000517337.2:c.265A>G	ENSP00000429971.2:p.Ile89Val
ENST00000523444.2:c.265A>G	ENSP00000428252.2:p.Ile89Val
ENST00000697292.1:c.511A>G	ENSP00000513229.1:p.Ile171Val
ENST00000697293.1:c.511A>G	ENSP00000513230.1:p.Ile171Val
ENST00000697294.1:c.*122A>G	ENSP00000513231.1:n.*122A>G
ENST00000697295.1:c.37+6232A>G	ENSP00000513232.1:n.37+6232A>G
ENST00000697296.1:c.*179A>G	ENSP00000513233.1:n.*179A>G
ENST00000697297.1:n.2296A>G
ENST00000697298.1:c.265A>G	ENSP00000513234.1:p.Ile89Val
ENST00000697299.1:c.265A>G	ENSP00000513235.1:p.Ile89Val
ENST00000697300.1:c.*115A>G	ENSP00000513236.1:n.*115A>G
ENST00000697301.1:c.*32A>G	ENSP00000513237.1:n.*32A>G
ENST00000697302.1:c.*32A>G	ENSP00000513238.1:n.*32A>G
ENST00000697303.1:c.*115A>G	ENSP00000513239.1:n.*115A>G
ENST00000697304.1:c.511A>G	ENSP00000513240.1:p.Ile171Val
ENST00000697306.1:c.480+2441A>G	ENSP00000513241.1:n.480+2441A>G
ENST00000697307.1:c.511A>G	ENSP00000513242.1:p.Ile171Val
ENST00000697308.1:c.511A>G	ENSP00000513243.1:p.Ile171Val
ENST00000697309.1:c.511A>G	ENSP00000513244.1:p.Ile171Val
ENST00000697310.1:c.511A>G	ENSP00000513245.1:p.Ile171Val
ENST00000697311.1:c.511A>G	ENSP00000513246.1:p.Ile171Val
ENST00000697312.1:c.480+2441A>G	ENSP00000513247.1:n.480+2441A>G
ENST00000697313.1:n.2302A>G
ENST00000697314.1:n.2302A>G
ENST00000697315.1:c.511A>G	ENSP00000513248.1:p.Ile171Val
ENST00000697316.1:n.632A>G
ENST00000697317.1:n.621A>G
ENST00000697318.1:n.623A>G
ENST00000265433.8:c.511A>G MANE Select	ENSP00000265433.4:p.Ile171Val
ENST00000265433.7:c.511A>G	ENSP00000265433.3:p.Ile171Val
ENST00000396252.6:c.*384A>G	ENSP00000379551.2:n.*384A>G
ENST00000409330.5:c.265A>G	ENSP00000386924.1:p.Ile89Val
ENST00000517337.1:c.265A>G	ENSP00000429971.1:p.Ile89Val
ENST00000517772.5:c.265A>G	ENSP00000428717.1:p.Ile89Val
ENST00000519426.5:c.320+3082A>G	ENSP00000430983.1:n.320+3082A>G
ENST00000523444.1:c.*343A>G	ENSP00000428252.1:n.*343A>G
NM_001024688.2:c.265A>G	NP_001019859.1:p.Ile89Val
NM_002485.4:c.511A>G , LRG_158t1:c.511A>G	NP_002476.2:p.Ile171Val
XM_011517044.1:c.487A>G	XP_011515346.1:p.Ile163Val
XM_011517045.1:c.265A>G	XP_011515347.1:p.Ile89Val
XM_011517046.1:c.511A>G	XP_011515348.1:p.Ile171Val
XR_928335.1:n.648A>G
XM_017013460.1:c.-369A>G	XP_016868949.1:n.-369A>G
XM_017013462.2:c.-296+2441A>G	XP_016868951.1:n.-296+2441A>G
XM_024447163.1:c.265A>G	XP_024302931.1:p.Ile89Val
XM_024447164.1:c.265A>G	XP_024302932.1:p.Ile89Val
XM_024447165.1:c.-369A>G	XP_024302933.1:n.-369A>G
NM_002485.5:c.511A>G MANE Select	NP_002476.2:p.Ile171Val
NM_001024688.3:c.265A>G	NP_001019859.1:p.Ile89Val