Canonical Allele Identifier: CA181275404
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 485910
dbSNP Id: rs962092255
gnomAD v2: 8-90960096-G-A
gnomAD v4: 8-89947868-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947868G>A , CM000670.2:g.89947868G>A GRCh38
NC_000008.10:g.90960096G>A , CM000670.1:g.90960096G>A GRCh37
NC_000008.9:g.91029272G>A NCBI36
NG_008860.1:g.41804C>T , LRG_158:g.41804C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3172C>T
ENST00000517337.2:c.1624C>T ENSP00000429971.2:p.Arg542Cys
ENST00000523444.2:c.1624C>T ENSP00000428252.2:p.Arg542Cys
ENST00000697292.1:c.1870C>T ENSP00000513229.1:p.Arg624Cys
ENST00000697293.1:c.1870C>T ENSP00000513230.1:p.Arg624Cys
ENST00000697294.1:c.*1481C>T ENSP00000513231.1:n.*1481C>T
ENST00000697295.1:c.*1179C>T ENSP00000513232.1:n.*1179C>T
ENST00000697296.1:c.*1538C>T ENSP00000513233.1:n.*1538C>T
ENST00000697297.1:n.3655C>T
ENST00000697298.1:c.1624C>T ENSP00000513234.1:p.Arg542Cys
ENST00000697299.1:c.1624C>T ENSP00000513235.1:p.Arg542Cys
ENST00000697300.1:c.*1474C>T ENSP00000513236.1:n.*1474C>T
ENST00000697301.1:c.*1391C>T ENSP00000513237.1:n.*1391C>T
ENST00000697302.1:c.*1391C>T ENSP00000513238.1:n.*1391C>T
ENST00000697303.1:c.*1474C>T ENSP00000513239.1:n.*1474C>T
ENST00000697304.1:c.1558C>T ENSP00000513240.1:p.Arg520Cys
ENST00000697306.1:c.*893C>T ENSP00000513241.1:n.*893C>T
ENST00000697307.1:c.1846-4502C>T ENSP00000513242.1:n.1846-4502C>T
ENST00000697308.1:c.1846-1573C>T ENSP00000513243.1:n.1846-1573C>T
ENST00000697309.1:c.1870C>T ENSP00000513244.1:p.Arg624Cys
ENST00000697310.1:c.1870C>T ENSP00000513245.1:p.Arg624Cys
ENST00000697311.1:c.1870C>T ENSP00000513246.1:p.Arg624Cys
ENST00000697312.1:c.*1268C>T ENSP00000513247.1:n.*1268C>T
ENST00000697313.1:n.2688-12256C>T
ENST00000697314.1:n.3636+5376C>T
ENST00000697315.1:c.1870C>T ENSP00000513248.1:p.Arg624Cys
ENST00000697316.1:n.1991C>T
ENST00000697317.1:n.1980C>T
ENST00000265433.8:c.1870C>T MANE Select ENSP00000265433.4:p.Arg624Cys
ENST00000265433.7:c.1870C>T ENSP00000265433.3:p.Arg624Cys
ENST00000396252.6:c.*1743C>T ENSP00000379551.2:n.*1743C>T
ENST00000409330.5:c.1624C>T ENSP00000386924.1:p.Arg542Cys
ENST00000613033.1:c.136C>T ENSP00000484487.1:p.Arg46Cys
NM_001024688.2:c.1624C>T NP_001019859.1:p.Arg542Cys
NM_002485.4:c.1870C>T , LRG_158t1:c.1870C>T NP_002476.2:p.Arg624Cys
XM_011517044.1:c.1846C>T XP_011515346.1:p.Arg616Cys
XM_011517045.1:c.1624C>T XP_011515347.1:p.Arg542Cys
XR_928335.1:n.2009C>T
XM_017013460.1:c.991C>T XP_016868949.1:p.Arg331Cys
XM_017013462.2:c.991C>T XP_016868951.1:p.Arg331Cys
XM_024447163.1:c.1624C>T XP_024302931.1:p.Arg542Cys
XM_024447164.1:c.1624C>T XP_024302932.1:p.Arg542Cys
XM_024447165.1:c.991C>T XP_024302933.1:p.Arg331Cys
NM_002485.5:c.1870C>T MANE Select NP_002476.2:p.Arg624Cys
NM_001024688.3:c.1624C>T NP_001019859.1:p.Arg542Cys