Canonical Allele Identifier: CA371660252
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 530732
ClinVar RCV Id: RCV000636727
dbSNP Id: rs1060504930
gnomAD v4: 8-89978263-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978263G>T , CM000670.2:g.89978263G>T GRCh38
NC_000008.10:g.90990491G>T , CM000670.1:g.90990491G>T GRCh37
NC_000008.9:g.91059667G>T NCBI36
NG_008860.1:g.11409C>A , LRG_158:g.11409C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1843C>A
ENST00000517337.2:c.295C>A ENSP00000429971.2:p.Leu99Met
ENST00000523444.2:c.295C>A ENSP00000428252.2:p.Leu99Met
ENST00000697292.1:c.541C>A ENSP00000513229.1:p.Leu181Met
ENST00000697293.1:c.541C>A ENSP00000513230.1:p.Leu181Met
ENST00000697294.1:c.*152C>A ENSP00000513231.1:n.*152C>A
ENST00000697295.1:c.37+6262C>A ENSP00000513232.1:n.37+6262C>A
ENST00000697296.1:c.*209C>A ENSP00000513233.1:n.*209C>A
ENST00000697297.1:n.2326C>A
ENST00000697298.1:c.295C>A ENSP00000513234.1:p.Leu99Met
ENST00000697299.1:c.295C>A ENSP00000513235.1:p.Leu99Met
ENST00000697300.1:c.*145C>A ENSP00000513236.1:n.*145C>A
ENST00000697301.1:c.*62C>A ENSP00000513237.1:n.*62C>A
ENST00000697302.1:c.*62C>A ENSP00000513238.1:n.*62C>A
ENST00000697303.1:c.*145C>A ENSP00000513239.1:n.*145C>A
ENST00000697304.1:c.541C>A ENSP00000513240.1:p.Leu181Met
ENST00000697306.1:c.480+2471C>A ENSP00000513241.1:n.480+2471C>A
ENST00000697307.1:c.541C>A ENSP00000513242.1:p.Leu181Met
ENST00000697308.1:c.541C>A ENSP00000513243.1:p.Leu181Met
ENST00000697309.1:c.541C>A ENSP00000513244.1:p.Leu181Met
ENST00000697310.1:c.541C>A ENSP00000513245.1:p.Leu181Met
ENST00000697311.1:c.541C>A ENSP00000513246.1:p.Leu181Met
ENST00000697312.1:c.480+2471C>A ENSP00000513247.1:n.480+2471C>A
ENST00000697313.1:n.2332C>A
ENST00000697314.1:n.2332C>A
ENST00000697315.1:c.541C>A ENSP00000513248.1:p.Leu181Met
ENST00000697316.1:n.662C>A
ENST00000697317.1:n.651C>A
ENST00000697318.1:n.653C>A
ENST00000265433.8:c.541C>A MANE Select ENSP00000265433.4:p.Leu181Met
ENST00000265433.7:c.541C>A ENSP00000265433.3:p.Leu181Met
ENST00000396252.6:c.*414C>A ENSP00000379551.2:n.*414C>A
ENST00000409330.5:c.295C>A ENSP00000386924.1:p.Leu99Met
ENST00000517772.5:c.295C>A ENSP00000428717.1:p.Leu99Met
ENST00000519426.5:c.320+3112C>A ENSP00000430983.1:n.320+3112C>A
NM_001024688.2:c.295C>A NP_001019859.1:p.Leu99Met
NM_002485.4:c.541C>A , LRG_158t1:c.541C>A NP_002476.2:p.Leu181Met
XM_011517044.1:c.517C>A XP_011515346.1:p.Leu173Met
XM_011517045.1:c.295C>A XP_011515347.1:p.Leu99Met
XM_011517046.1:c.541C>A XP_011515348.1:p.Leu181Met
XR_928335.1:n.678C>A
XM_017013460.1:c.-339C>A XP_016868949.1:n.-339C>A
XM_017013462.2:c.-296+2471C>A XP_016868951.1:n.-296+2471C>A
XM_024447163.1:c.295C>A XP_024302931.1:p.Leu99Met
XM_024447164.1:c.295C>A XP_024302932.1:p.Leu99Met
XM_024447165.1:c.-339C>A XP_024302933.1:n.-339C>A
NM_002485.5:c.541C>A MANE Select NP_002476.2:p.Leu181Met
NM_001024688.3:c.295C>A NP_001019859.1:p.Leu99Met