Canonical Allele Identifier: CA160996

Gene: NBN

Linked Data

• ClinVar Variation Id: 134877
• ClinVar RCV Id: RCV000121623 ; RCV000583974 ; RCV000666592
• dbSNP Id: rs587778547
• gnomAD v4: 8-89970388-T-C
• MyVariant Identifiers: chr8:g.90982616T>C (hg19) ; chr8:g.89970388T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970388T>C , CM000670.2:g.89970388T>C	GRCh38
NC_000008.10:g.90982616T>C , CM000670.1:g.90982616T>C	GRCh37
NC_000008.9:g.91051792T>C	NCBI36
NG_008860.1:g.19284A>G , LRG_158:g.19284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2174A>G
ENST00000517337.2:c.626A>G	ENSP00000429971.2:p.Gln209Arg
ENST00000523444.2:c.626A>G	ENSP00000428252.2:p.Gln209Arg
ENST00000697292.1:c.872A>G	ENSP00000513229.1:p.Gln291Arg
ENST00000697293.1:c.872A>G	ENSP00000513230.1:p.Gln291Arg
ENST00000697294.1:c.*483A>G	ENSP00000513231.1:n.*483A>G
ENST00000697295.1:c.*181A>G	ENSP00000513232.1:n.*181A>G
ENST00000697296.1:c.*540A>G	ENSP00000513233.1:n.*540A>G
ENST00000697297.1:n.2657A>G
ENST00000697298.1:c.626A>G	ENSP00000513234.1:p.Gln209Arg
ENST00000697299.1:c.626A>G	ENSP00000513235.1:p.Gln209Arg
ENST00000697300.1:c.*476A>G	ENSP00000513236.1:n.*476A>G
ENST00000697301.1:c.*393A>G	ENSP00000513237.1:n.*393A>G
ENST00000697302.1:c.*393A>G	ENSP00000513238.1:n.*393A>G
ENST00000697303.1:c.*476A>G	ENSP00000513239.1:n.*476A>G
ENST00000697304.1:c.585-5881A>G	ENSP00000513240.1:n.585-5881A>G
ENST00000697306.1:c.480+10346A>G	ENSP00000513241.1:n.480+10346A>G
ENST00000697307.1:c.872A>G	ENSP00000513242.1:p.Gln291Arg
ENST00000697308.1:c.872A>G	ENSP00000513243.1:p.Gln291Arg
ENST00000697309.1:c.872A>G	ENSP00000513244.1:p.Gln291Arg
ENST00000697310.1:c.872A>G	ENSP00000513245.1:p.Gln291Arg
ENST00000697311.1:c.872A>G	ENSP00000513246.1:p.Gln291Arg
ENST00000697312.1:c.*270A>G	ENSP00000513247.1:n.*270A>G
ENST00000697313.1:n.2663A>G
ENST00000697314.1:n.2663A>G
ENST00000697315.1:c.872A>G	ENSP00000513248.1:p.Gln291Arg
ENST00000697316.1:n.993A>G
ENST00000697317.1:n.982A>G
ENST00000697318.1:n.984A>G
ENST00000265433.8:c.872A>G MANE Select	ENSP00000265433.4:p.Gln291Arg
ENST00000265433.7:c.872A>G	ENSP00000265433.3:p.Gln291Arg
ENST00000396252.6:c.*745A>G	ENSP00000379551.2:n.*745A>G
ENST00000409330.5:c.626A>G	ENSP00000386924.1:p.Gln209Arg
NM_001024688.2:c.626A>G	NP_001019859.1:p.Gln209Arg
NM_002485.4:c.872A>G , LRG_158t1:c.872A>G	NP_002476.2:p.Gln291Arg
XM_011517044.1:c.848A>G	XP_011515346.1:p.Gln283Arg
XM_011517045.1:c.626A>G	XP_011515347.1:p.Gln209Arg
XM_011517046.1:c.872A>G	XP_011515348.1:p.Gln291Arg
XR_928335.1:n.1009A>G
XM_017013460.1:c.-8A>G	XP_016868949.1:n.-8A>G
XM_017013462.2:c.-8A>G	XP_016868951.1:n.-8A>G
XM_024447163.1:c.626A>G	XP_024302931.1:p.Gln209Arg
XM_024447164.1:c.626A>G	XP_024302932.1:p.Gln209Arg
XM_024447165.1:c.-8A>G	XP_024302933.1:n.-8A>G
NM_002485.5:c.872A>G MANE Select	NP_002476.2:p.Gln291Arg
NM_001024688.3:c.626A>G	NP_001019859.1:p.Gln209Arg