Canonical Allele Identifier: CA167743
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 142203
dbSNP Id: rs200287925
gnomAD v2: 8-90994994-G-A
gnomAD v3: 8-89982766-G-A
gnomAD v4: 8-89982766-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982766G>A , CM000670.2:g.89982766G>A GRCh38
NC_000008.10:g.90994994G>A , CM000670.1:g.90994994G>A GRCh37
NC_000008.9:g.91064170G>A NCBI36
NG_008860.1:g.6906C>T , LRG_158:g.6906C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.231C>T
ENST00000517337.2:c.-170C>T ENSP00000429971.2:n.-170C>T
ENST00000523444.2:c.-170C>T ENSP00000428252.2:n.-170C>T
ENST00000697292.1:c.127C>T ENSP00000513229.1:p.Arg43Ter
ENST00000697293.1:c.127C>T ENSP00000513230.1:p.Arg43Ter
ENST00000697294.1:c.127C>T ENSP00000513231.1:p.Arg43Ter
ENST00000697295.1:c.37+1759C>T ENSP00000513232.1:n.37+1759C>T
ENST00000697296.1:c.127C>T ENSP00000513233.1:p.Arg43Ter
ENST00000697297.1:n.233C>T
ENST00000697298.1:c.-170C>T ENSP00000513234.1:n.-170C>T
ENST00000697299.1:c.-75-1243C>T ENSP00000513235.1:n.-75-1243C>T
ENST00000697300.1:c.-170C>T ENSP00000513236.1:n.-170C>T
ENST00000697301.1:c.-170C>T ENSP00000513237.1:n.-170C>T
ENST00000697302.1:c.127C>T ENSP00000513238.1:p.Arg43Ter
ENST00000697303.1:c.127C>T ENSP00000513239.1:p.Arg43Ter
ENST00000697304.1:c.127C>T ENSP00000513240.1:p.Arg43Ter
ENST00000697306.1:c.127C>T ENSP00000513241.1:p.Arg43Ter
ENST00000697307.1:c.127C>T ENSP00000513242.1:p.Arg43Ter
ENST00000697308.1:c.127C>T ENSP00000513243.1:p.Arg43Ter
ENST00000697309.1:c.127C>T ENSP00000513244.1:p.Arg43Ter
ENST00000697310.1:c.127C>T ENSP00000513245.1:p.Arg43Ter
ENST00000697311.1:c.127C>T ENSP00000513246.1:p.Arg43Ter
ENST00000697312.1:c.127C>T ENSP00000513247.1:p.Arg43Ter
ENST00000697313.1:n.239C>T
ENST00000697314.1:n.239C>T
ENST00000697315.1:c.127C>T ENSP00000513248.1:p.Arg43Ter
ENST00000697316.1:n.248C>T
ENST00000697317.1:n.237C>T
ENST00000697318.1:n.239C>T
ENST00000265433.8:c.127C>T MANE Select ENSP00000265433.4:p.Arg43Ter
ENST00000265433.7:c.127C>T ENSP00000265433.3:p.Arg43Ter
ENST00000396252.6:c.127C>T ENSP00000379551.2:p.Arg43Ter
ENST00000409330.5:c.-120C>T ENSP00000386924.1:n.-120C>T
ENST00000494804.1:n.231C>T
ENST00000517337.1:c.-170C>T ENSP00000429971.1:n.-170C>T
ENST00000519426.5:c.127C>T ENSP00000430983.1:p.Arg43Ter
ENST00000523444.1:c.127C>T ENSP00000428252.1:p.Arg43Ter
NM_001024688.2:c.-170C>T NP_001019859.1:n.-170C>T
NM_002485.4:c.127C>T , LRG_158t1:c.127C>T NP_002476.2:p.Arg43Ter
XM_011517044.1:c.103C>T XP_011515346.1:p.Arg35Ter
XM_011517045.1:c.-170C>T XP_011515347.1:n.-170C>T
XM_011517046.1:c.127C>T XP_011515348.1:p.Arg43Ter
XR_928335.1:n.264C>T
XM_017013460.1:c.-893C>T XP_016868949.1:n.-893C>T
XM_017013462.2:c.-699C>T XP_016868951.1:n.-699C>T
XM_024447163.1:c.-120C>T XP_024302931.1:n.-120C>T
XM_024447165.1:c.-843C>T XP_024302933.1:n.-843C>T
NM_002485.5:c.127C>T MANE Select NP_002476.2:p.Arg43Ter
NM_001024688.3:c.-170C>T NP_001019859.1:n.-170C>T