Canonical Allele Identifier: CA160987
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 134876
dbSNP Id: rs1805794
gnomAD v2: 8-90990479-C-G
gnomAD v3: 8-89978251-C-G
gnomAD v4: 8-89978251-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978251C>G , CM000670.2:g.89978251C>G GRCh38
NC_000008.10:g.90990479C>G , CM000670.1:g.90990479C>G GRCh37
NC_000008.9:g.91059655C>G NCBI36
NG_008860.1:g.11421G>C , LRG_158:g.11421G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1855G>C
ENST00000517337.2:c.307G>C ENSP00000429971.2:p.Glu103Gln
ENST00000523444.2:c.307G>C ENSP00000428252.2:p.Glu103Gln
ENST00000697292.1:c.553G>C ENSP00000513229.1:p.Glu185Gln
ENST00000697293.1:c.553G>C ENSP00000513230.1:p.Glu185Gln
ENST00000697294.1:c.*164G>C ENSP00000513231.1:n.*164G>C
ENST00000697295.1:c.37+6274G>C ENSP00000513232.1:n.37+6274G>C
ENST00000697296.1:c.*221G>C ENSP00000513233.1:n.*221G>C
ENST00000697297.1:n.2338G>C
ENST00000697298.1:c.307G>C ENSP00000513234.1:p.Glu103Gln
ENST00000697299.1:c.307G>C ENSP00000513235.1:p.Glu103Gln
ENST00000697300.1:c.*157G>C ENSP00000513236.1:n.*157G>C
ENST00000697301.1:c.*74G>C ENSP00000513237.1:n.*74G>C
ENST00000697302.1:c.*74G>C ENSP00000513238.1:n.*74G>C
ENST00000697303.1:c.*157G>C ENSP00000513239.1:n.*157G>C
ENST00000697304.1:c.553G>C ENSP00000513240.1:p.Glu185Gln
ENST00000697306.1:c.480+2483G>C ENSP00000513241.1:n.480+2483G>C
ENST00000697307.1:c.553G>C ENSP00000513242.1:p.Glu185Gln
ENST00000697308.1:c.553G>C ENSP00000513243.1:p.Glu185Gln
ENST00000697309.1:c.553G>C ENSP00000513244.1:p.Glu185Gln
ENST00000697310.1:c.553G>C ENSP00000513245.1:p.Glu185Gln
ENST00000697311.1:c.553G>C ENSP00000513246.1:p.Glu185Gln
ENST00000697312.1:c.480+2483G>C ENSP00000513247.1:n.480+2483G>C
ENST00000697313.1:n.2344G>C
ENST00000697314.1:n.2344G>C
ENST00000697315.1:c.553G>C ENSP00000513248.1:p.Glu185Gln
ENST00000697316.1:n.674G>C
ENST00000697317.1:n.663G>C
ENST00000697318.1:n.665G>C
ENST00000265433.8:c.553G>C MANE Select ENSP00000265433.4:p.Glu185Gln
ENST00000265433.7:c.553G>C ENSP00000265433.3:p.Glu185Gln
ENST00000396252.6:c.*426G>C ENSP00000379551.2:n.*426G>C
ENST00000409330.5:c.307G>C ENSP00000386924.1:p.Glu103Gln
ENST00000517772.5:c.307G>C ENSP00000428717.1:p.Glu103Gln
ENST00000519426.5:c.320+3124G>C ENSP00000430983.1:n.320+3124G>C
NM_001024688.2:c.307G>C NP_001019859.1:p.Glu103Gln
NM_002485.4:c.553G>C , LRG_158t1:c.553G>C NP_002476.2:p.Glu185Gln
XM_011517044.1:c.529G>C XP_011515346.1:p.Glu177Gln
XM_011517045.1:c.307G>C XP_011515347.1:p.Glu103Gln
XM_011517046.1:c.553G>C XP_011515348.1:p.Glu185Gln
XR_928335.1:n.690G>C
XM_017013460.1:c.-327G>C XP_016868949.1:n.-327G>C
XM_017013462.2:c.-296+2483G>C XP_016868951.1:n.-296+2483G>C
XM_024447163.1:c.307G>C XP_024302931.1:p.Glu103Gln
XM_024447164.1:c.307G>C XP_024302932.1:p.Glu103Gln
XM_024447165.1:c.-327G>C XP_024302933.1:n.-327G>C
NM_002485.5:c.553G>C MANE Select NP_002476.2:p.Glu185Gln
NM_001024688.3:c.307G>C NP_001019859.1:p.Glu103Gln