Canonical Allele Identifier: CA16041208
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 371223
ClinVar RCV Id: RCV000412152
dbSNP Id: rs1057517102

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89955556C>T , CM000670.2:g.89955556C>T GRCh38
NC_000008.10:g.90967784C>T , CM000670.1:g.90967784C>T GRCh37
NC_000008.9:g.91036960C>T NCBI36
NG_008860.1:g.34116G>A , LRG_158:g.34116G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.2427-1G>A
ENST00000517337.2:c.879-1G>A ENSP00000429971.2:n.879-1G>A
ENST00000523444.2:c.879-1G>A ENSP00000428252.2:n.879-1G>A
ENST00000697292.1:c.1125-1G>A ENSP00000513229.1:n.1125-1G>A
ENST00000697293.1:c.1125-1G>A ENSP00000513230.1:n.1125-1G>A
ENST00000697294.1:c.*736-1G>A ENSP00000513231.1:n.*736-1G>A
ENST00000697295.1:c.*434-1G>A ENSP00000513232.1:n.*434-1G>A
ENST00000697296.1:c.*793-1G>A ENSP00000513233.1:n.*793-1G>A
ENST00000697297.1:n.2910-1G>A
ENST00000697298.1:c.879-1G>A ENSP00000513234.1:n.879-1G>A
ENST00000697299.1:c.879-1G>A ENSP00000513235.1:n.879-1G>A
ENST00000697300.1:c.*729-1G>A ENSP00000513236.1:n.*729-1G>A
ENST00000697301.1:c.*646-1G>A ENSP00000513237.1:n.*646-1G>A
ENST00000697302.1:c.*646-1G>A ENSP00000513238.1:n.*646-1G>A
ENST00000697303.1:c.*729-1G>A ENSP00000513239.1:n.*729-1G>A
ENST00000697304.1:c.813-1G>A ENSP00000513240.1:n.813-1G>A
ENST00000697306.1:c.*125-1G>A ENSP00000513241.1:n.*125-1G>A
ENST00000697307.1:c.1125-1G>A ENSP00000513242.1:n.1125-1G>A
ENST00000697308.1:c.1125-1G>A ENSP00000513243.1:n.1125-1G>A
ENST00000697309.1:c.1125-1G>A ENSP00000513244.1:n.1125-1G>A
ENST00000697310.1:c.1125-1G>A ENSP00000513245.1:n.1125-1G>A
ENST00000697311.1:c.1125-1G>A ENSP00000513246.1:n.1125-1G>A
ENST00000697312.1:c.*523-1G>A ENSP00000513247.1:n.*523-1G>A
ENST00000697313.1:n.2687+14808G>A
ENST00000697314.1:n.2916-1G>A
ENST00000697315.1:c.1125-1G>A ENSP00000513248.1:n.1125-1G>A
ENST00000697316.1:n.1246-1G>A
ENST00000697317.1:n.1235-1G>A
ENST00000697318.1:n.1237-1G>A
ENST00000265433.8:c.1125-1G>A MANE Select ENSP00000265433.4:n.1125-1G>A
ENST00000265433.7:c.1125-1G>A ENSP00000265433.3:n.1125-1G>A
ENST00000396252.6:c.*998-1G>A ENSP00000379551.2:n.*998-1G>A
ENST00000409330.5:c.879-1G>A ENSP00000386924.1:n.879-1G>A
NM_001024688.2:c.879-1G>A NP_001019859.1:n.879-1G>A
NM_002485.4:c.1125-1G>A , LRG_158t1:c.1125-1G>A NP_002476.2:n.1125-1G>A
XM_011517044.1:c.1101-1G>A XP_011515346.1:n.1101-1G>A
XM_011517045.1:c.879-1G>A XP_011515347.1:n.879-1G>A
XM_011517046.1:c.1125-1G>A XP_011515348.1:n.1125-1G>A
XR_928335.1:n.1262-1G>A
XM_017013460.1:c.246-1G>A XP_016868949.1:n.246-1G>A
XM_017013462.2:c.246-1G>A XP_016868951.1:n.246-1G>A
XM_024447163.1:c.879-1G>A XP_024302931.1:n.879-1G>A
XM_024447164.1:c.879-1G>A XP_024302932.1:n.879-1G>A
XM_024447165.1:c.246-1G>A XP_024302933.1:n.246-1G>A
NM_002485.5:c.1125-1G>A MANE Select NP_002476.2:n.1125-1G>A
NM_001024688.3:c.879-1G>A NP_001019859.1:n.879-1G>A