Canonical Allele Identifier: CA181276279

Gene: NBN

Linked Data

• ClinVar Variation Id: 1764847
• ClinVar RCV Id: RCV002373801
• dbSNP Id: rs796945047
• gnomAD v4: 8-89970377-C-T
• MyVariant Identifiers: chr8:g.90982605C>T (hg19) ; chr8:g.89970377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970377C>T , CM000670.2:g.89970377C>T	GRCh38
NC_000008.10:g.90982605C>T , CM000670.1:g.90982605C>T	GRCh37
NC_000008.9:g.91051781C>T	NCBI36
NG_008860.1:g.19295G>A , LRG_158:g.19295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2185G>A
ENST00000517337.2:c.637G>A	ENSP00000429971.2:p.Asp213Asn
ENST00000523444.2:c.637G>A	ENSP00000428252.2:p.Asp213Asn
ENST00000697292.1:c.883G>A	ENSP00000513229.1:p.Asp295Asn
ENST00000697293.1:c.883G>A	ENSP00000513230.1:p.Asp295Asn
ENST00000697294.1:c.*494G>A	ENSP00000513231.1:n.*494G>A
ENST00000697295.1:c.*192G>A	ENSP00000513232.1:n.*192G>A
ENST00000697296.1:c.*551G>A	ENSP00000513233.1:n.*551G>A
ENST00000697297.1:n.2668G>A
ENST00000697298.1:c.637G>A	ENSP00000513234.1:p.Asp213Asn
ENST00000697299.1:c.637G>A	ENSP00000513235.1:p.Asp213Asn
ENST00000697300.1:c.*487G>A	ENSP00000513236.1:n.*487G>A
ENST00000697301.1:c.*404G>A	ENSP00000513237.1:n.*404G>A
ENST00000697302.1:c.*404G>A	ENSP00000513238.1:n.*404G>A
ENST00000697303.1:c.*487G>A	ENSP00000513239.1:n.*487G>A
ENST00000697304.1:c.585-5870G>A	ENSP00000513240.1:n.585-5870G>A
ENST00000697306.1:c.480+10357G>A	ENSP00000513241.1:n.480+10357G>A
ENST00000697307.1:c.883G>A	ENSP00000513242.1:p.Asp295Asn
ENST00000697308.1:c.883G>A	ENSP00000513243.1:p.Asp295Asn
ENST00000697309.1:c.883G>A	ENSP00000513244.1:p.Asp295Asn
ENST00000697310.1:c.883G>A	ENSP00000513245.1:p.Asp295Asn
ENST00000697311.1:c.883G>A	ENSP00000513246.1:p.Asp295Asn
ENST00000697312.1:c.*281G>A	ENSP00000513247.1:n.*281G>A
ENST00000697313.1:n.2674G>A
ENST00000697314.1:n.2674G>A
ENST00000697315.1:c.883G>A	ENSP00000513248.1:p.Asp295Asn
ENST00000697316.1:n.1004G>A
ENST00000697317.1:n.993G>A
ENST00000697318.1:n.995G>A
ENST00000265433.8:c.883G>A MANE Select	ENSP00000265433.4:p.Asp295Asn
ENST00000265433.7:c.883G>A	ENSP00000265433.3:p.Asp295Asn
ENST00000396252.6:c.*756G>A	ENSP00000379551.2:n.*756G>A
ENST00000409330.5:c.637G>A	ENSP00000386924.1:p.Asp213Asn
NM_001024688.2:c.637G>A	NP_001019859.1:p.Asp213Asn
NM_002485.4:c.883G>A , LRG_158t1:c.883G>A	NP_002476.2:p.Asp295Asn
XM_011517044.1:c.859G>A	XP_011515346.1:p.Asp287Asn
XM_011517045.1:c.637G>A	XP_011515347.1:p.Asp213Asn
XM_011517046.1:c.883G>A	XP_011515348.1:p.Asp295Asn
XR_928335.1:n.1020G>A
XM_017013460.1:c.4G>A	XP_016868949.1:p.Asp2Asn
XM_017013462.2:c.4G>A	XP_016868951.1:p.Asp2Asn
XM_024447163.1:c.637G>A	XP_024302931.1:p.Asp213Asn
XM_024447164.1:c.637G>A	XP_024302932.1:p.Asp213Asn
XM_024447165.1:c.4G>A	XP_024302933.1:p.Asp2Asn
NM_002485.5:c.883G>A MANE Select	NP_002476.2:p.Asp295Asn
NM_001024688.3:c.637G>A	NP_001019859.1:p.Asp213Asn