Canonical Allele Identifier: CA371655319

Gene: NBN

Linked Data

• ClinVar Variation Id: 628547
• ClinVar RCV Id: RCV001216933
• dbSNP Id: rs1466493008
• gnomAD v2: 8-90965630-A-T
• gnomAD v4: 8-89953402-A-T
• MyVariant Identifiers: chr8:g.90965630A>T (hg19) ; chr8:g.89953402A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953402A>T , CM000670.2:g.89953402A>T	GRCh38
NC_000008.10:g.90965630A>T , CM000670.1:g.90965630A>T	GRCh37
NC_000008.9:g.91034806A>T	NCBI36
NG_008860.1:g.36270T>A , LRG_158:g.36270T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2989T>A
ENST00000517337.2:c.1441T>A	ENSP00000429971.2:p.Leu481Met
ENST00000523444.2:c.1441T>A	ENSP00000428252.2:p.Leu481Met
ENST00000697292.1:c.1687T>A	ENSP00000513229.1:p.Leu563Met
ENST00000697293.1:c.1687T>A	ENSP00000513230.1:p.Leu563Met
ENST00000697294.1:c.*1298T>A	ENSP00000513231.1:n.*1298T>A
ENST00000697295.1:c.*996T>A	ENSP00000513232.1:n.*996T>A
ENST00000697296.1:c.*1355T>A	ENSP00000513233.1:n.*1355T>A
ENST00000697297.1:n.3472T>A
ENST00000697298.1:c.1441T>A	ENSP00000513234.1:p.Leu481Met
ENST00000697299.1:c.1441T>A	ENSP00000513235.1:p.Leu481Met
ENST00000697300.1:c.*1291T>A	ENSP00000513236.1:n.*1291T>A
ENST00000697301.1:c.*1208T>A	ENSP00000513237.1:n.*1208T>A
ENST00000697302.1:c.*1208T>A	ENSP00000513238.1:n.*1208T>A
ENST00000697303.1:c.*1291T>A	ENSP00000513239.1:n.*1291T>A
ENST00000697304.1:c.1375T>A	ENSP00000513240.1:p.Leu459Met
ENST00000697306.1:c.*687T>A	ENSP00000513241.1:n.*687T>A
ENST00000697307.1:c.1687T>A	ENSP00000513242.1:p.Leu563Met
ENST00000697308.1:c.1687T>A	ENSP00000513243.1:p.Leu563Met
ENST00000697309.1:c.1687T>A	ENSP00000513244.1:p.Leu563Met
ENST00000697310.1:c.1687T>A	ENSP00000513245.1:p.Leu563Met
ENST00000697311.1:c.1687T>A	ENSP00000513246.1:p.Leu563Met
ENST00000697312.1:c.*1085T>A	ENSP00000513247.1:n.*1085T>A
ENST00000697313.1:n.2687+16962T>A
ENST00000697314.1:n.3478T>A
ENST00000697315.1:c.1687T>A	ENSP00000513248.1:p.Leu563Met
ENST00000697316.1:n.1808T>A
ENST00000697317.1:n.1797T>A
ENST00000697318.1:n.1799T>A
ENST00000265433.8:c.1687T>A MANE Select	ENSP00000265433.4:p.Leu563Met
ENST00000265433.7:c.1687T>A	ENSP00000265433.3:p.Leu563Met
ENST00000396252.6:c.*1560T>A	ENSP00000379551.2:n.*1560T>A
ENST00000409330.5:c.1441T>A	ENSP00000386924.1:p.Leu481Met
NM_001024688.2:c.1441T>A	NP_001019859.1:p.Leu481Met
NM_002485.4:c.1687T>A , LRG_158t1:c.1687T>A	NP_002476.2:p.Leu563Met
XM_011517044.1:c.1663T>A	XP_011515346.1:p.Leu555Met
XM_011517045.1:c.1441T>A	XP_011515347.1:p.Leu481Met
XR_928335.1:n.1826T>A
XM_017013460.1:c.808T>A	XP_016868949.1:p.Leu270Met
XM_017013462.2:c.808T>A	XP_016868951.1:p.Leu270Met
XM_024447163.1:c.1441T>A	XP_024302931.1:p.Leu481Met
XM_024447164.1:c.1441T>A	XP_024302932.1:p.Leu481Met
XM_024447165.1:c.808T>A	XP_024302933.1:p.Leu270Met
NM_002485.5:c.1687T>A MANE Select	NP_002476.2:p.Leu563Met
NM_001024688.3:c.1441T>A	NP_001019859.1:p.Leu481Met