Canonical Allele Identifier: CA16044376
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 375601
dbSNP Id: rs1057519585
gnomAD v4: 8-89980884-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89980884A>C , CM000670.2:g.89980884A>C GRCh38
NC_000008.10:g.90993112A>C , CM000670.1:g.90993112A>C GRCh37
NC_000008.9:g.91062288A>C NCBI36
NG_008860.1:g.8788T>G , LRG_158:g.8788T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1632T>G
ENST00000517337.2:c.84T>G ENSP00000429971.2:p.Tyr28Ter
ENST00000523444.2:c.84T>G ENSP00000428252.2:p.Tyr28Ter
ENST00000697292.1:c.330T>G ENSP00000513229.1:p.Tyr110Ter
ENST00000697293.1:c.330T>G ENSP00000513230.1:p.Tyr110Ter
ENST00000697294.1:c.321-32T>G ENSP00000513231.1:n.321-32T>G
ENST00000697295.1:c.37+3641T>G ENSP00000513232.1:n.37+3641T>G
ENST00000697296.1:c.181T>G ENSP00000513233.1:p.Ter61Gly
ENST00000697297.1:n.2115T>G
ENST00000697298.1:c.84T>G ENSP00000513234.1:p.Tyr28Ter
ENST00000697299.1:c.84T>G ENSP00000513235.1:p.Tyr28Ter
ENST00000697300.1:c.84T>G ENSP00000513236.1:p.Tyr28Ter
ENST00000697301.1:c.75-32T>G ENSP00000513237.1:n.75-32T>G
ENST00000697302.1:c.321-32T>G ENSP00000513238.1:n.321-32T>G
ENST00000697303.1:c.330T>G ENSP00000513239.1:p.Tyr110Ter
ENST00000697304.1:c.330T>G ENSP00000513240.1:p.Tyr110Ter
ENST00000697306.1:c.330T>G ENSP00000513241.1:p.Tyr110Ter
ENST00000697307.1:c.330T>G ENSP00000513242.1:p.Tyr110Ter
ENST00000697308.1:c.330T>G ENSP00000513243.1:p.Tyr110Ter
ENST00000697309.1:c.330T>G ENSP00000513244.1:p.Tyr110Ter
ENST00000697310.1:c.330T>G ENSP00000513245.1:p.Tyr110Ter
ENST00000697311.1:c.330T>G ENSP00000513246.1:p.Tyr110Ter
ENST00000697312.1:c.330T>G ENSP00000513247.1:p.Tyr110Ter
ENST00000697313.1:n.2121T>G
ENST00000697314.1:n.2121T>G
ENST00000697315.1:c.330T>G ENSP00000513248.1:p.Tyr110Ter
ENST00000697316.1:n.451T>G
ENST00000697317.1:n.440T>G
ENST00000697318.1:n.442T>G
ENST00000265433.8:c.330T>G MANE Select ENSP00000265433.4:p.Tyr110Ter
ENST00000265433.7:c.330T>G ENSP00000265433.3:p.Tyr110Ter
ENST00000396252.6:c.*203T>G ENSP00000379551.2:n.*203T>G
ENST00000409330.5:c.84T>G ENSP00000386924.1:p.Tyr28Ter
ENST00000517337.1:c.84T>G ENSP00000429971.1:p.Tyr28Ter
ENST00000517772.5:c.84T>G ENSP00000428717.1:p.Tyr28Ter
ENST00000519426.5:c.320+491T>G ENSP00000430983.1:n.320+491T>G
ENST00000523444.1:c.*194-32T>G ENSP00000428252.1:n.*194-32T>G
NM_001024688.2:c.84T>G NP_001019859.1:p.Tyr28Ter
NM_002485.4:c.330T>G , LRG_158t1:c.330T>G NP_002476.2:p.Tyr110Ter
XM_011517044.1:c.306T>G XP_011515346.1:p.Tyr102Ter
XM_011517045.1:c.84T>G XP_011515347.1:p.Tyr28Ter
XM_011517046.1:c.330T>G XP_011515348.1:p.Tyr110Ter
XR_928335.1:n.467T>G
XM_017013460.1:c.-640T>G XP_016868949.1:n.-640T>G
XM_017013462.2:c.-446T>G XP_016868951.1:n.-446T>G
XM_024447163.1:c.84T>G XP_024302931.1:p.Tyr28Ter
XM_024447164.1:c.84T>G XP_024302932.1:p.Tyr28Ter
XM_024447165.1:c.-640T>G XP_024302933.1:n.-640T>G
NM_002485.5:c.330T>G MANE Select NP_002476.2:p.Tyr110Ter
NM_001024688.3:c.84T>G NP_001019859.1:p.Tyr28Ter