Canonical Allele Identifier: CA371658811

Gene: NBN

Linked Data

• gnomAD v4: 8-89970518-C-T
• MyVariant Identifiers: chr8:g.90982746C>T (hg19) ; chr8:g.89970518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970518C>T , CM000670.2:g.89970518C>T	GRCh38
NC_000008.10:g.90982746C>T , CM000670.1:g.90982746C>T	GRCh37
NC_000008.9:g.91051922C>T	NCBI36
NG_008860.1:g.19154G>A , LRG_158:g.19154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2044G>A
ENST00000517337.2:c.496G>A	ENSP00000429971.2:p.Glu166Lys
ENST00000523444.2:c.496G>A	ENSP00000428252.2:p.Glu166Lys
ENST00000697292.1:c.742G>A	ENSP00000513229.1:p.Glu248Lys
ENST00000697293.1:c.742G>A	ENSP00000513230.1:p.Glu248Lys
ENST00000697294.1:c.*353G>A	ENSP00000513231.1:n.*353G>A
ENST00000697295.1:c.*51G>A	ENSP00000513232.1:n.*51G>A
ENST00000697296.1:c.*410G>A	ENSP00000513233.1:n.*410G>A
ENST00000697297.1:n.2527G>A
ENST00000697298.1:c.496G>A	ENSP00000513234.1:p.Glu166Lys
ENST00000697299.1:c.496G>A	ENSP00000513235.1:p.Glu166Lys
ENST00000697300.1:c.*346G>A	ENSP00000513236.1:n.*346G>A
ENST00000697301.1:c.*263G>A	ENSP00000513237.1:n.*263G>A
ENST00000697302.1:c.*263G>A	ENSP00000513238.1:n.*263G>A
ENST00000697303.1:c.*346G>A	ENSP00000513239.1:n.*346G>A
ENST00000697304.1:c.585-6011G>A	ENSP00000513240.1:n.585-6011G>A
ENST00000697306.1:c.480+10216G>A	ENSP00000513241.1:n.480+10216G>A
ENST00000697307.1:c.742G>A	ENSP00000513242.1:p.Glu248Lys
ENST00000697308.1:c.742G>A	ENSP00000513243.1:p.Glu248Lys
ENST00000697309.1:c.742G>A	ENSP00000513244.1:p.Glu248Lys
ENST00000697310.1:c.742G>A	ENSP00000513245.1:p.Glu248Lys
ENST00000697311.1:c.742G>A	ENSP00000513246.1:p.Glu248Lys
ENST00000697312.1:c.*140G>A	ENSP00000513247.1:n.*140G>A
ENST00000697313.1:n.2533G>A
ENST00000697314.1:n.2533G>A
ENST00000697315.1:c.742G>A	ENSP00000513248.1:p.Glu248Lys
ENST00000697316.1:n.863G>A
ENST00000697317.1:n.852G>A
ENST00000697318.1:n.854G>A
ENST00000265433.8:c.742G>A MANE Select	ENSP00000265433.4:p.Glu248Lys
ENST00000265433.7:c.742G>A	ENSP00000265433.3:p.Glu248Lys
ENST00000396252.6:c.*615G>A	ENSP00000379551.2:n.*615G>A
ENST00000409330.5:c.496G>A	ENSP00000386924.1:p.Glu166Lys
NM_001024688.2:c.496G>A	NP_001019859.1:p.Glu166Lys
NM_002485.4:c.742G>A , LRG_158t1:c.742G>A	NP_002476.2:p.Glu248Lys
XM_011517044.1:c.718G>A	XP_011515346.1:p.Glu240Lys
XM_011517045.1:c.496G>A	XP_011515347.1:p.Glu166Lys
XM_011517046.1:c.742G>A	XP_011515348.1:p.Glu248Lys
XR_928335.1:n.879G>A
XM_017013460.1:c.-138G>A	XP_016868949.1:n.-138G>A
XM_017013462.2:c.-138G>A	XP_016868951.1:n.-138G>A
XM_024447163.1:c.496G>A	XP_024302931.1:p.Glu166Lys
XM_024447164.1:c.496G>A	XP_024302932.1:p.Glu166Lys
XM_024447165.1:c.-138G>A	XP_024302933.1:n.-138G>A
NM_002485.5:c.742G>A MANE Select	NP_002476.2:p.Glu248Lys
NM_001024688.3:c.496G>A	NP_001019859.1:p.Glu166Lys