Canonical Allele Identifier: CA16612547

Gene: NBN

Linked Data

• ClinVar Variation Id: 411778
• ClinVar RCV Id: RCV000468446 ; RCV000569502 ; RCV001575608
• dbSNP Id: rs1060503482
• gnomAD v4: 8-89970554-T-C
• MyVariant Identifiers: chr8:g.90982782T>C (hg19) ; chr8:g.89970554T>C (hg38)
• PubMed: PMID:25239263

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970554T>C , CM000670.2:g.89970554T>C	GRCh38
NC_000008.10:g.90982782T>C , CM000670.1:g.90982782T>C	GRCh37
NC_000008.9:g.91051958T>C	NCBI36
NG_008860.1:g.19118A>G , LRG_158:g.19118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2008A>G
ENST00000517337.2:c.460A>G	ENSP00000429971.2:p.Lys154Glu
ENST00000523444.2:c.460A>G	ENSP00000428252.2:p.Lys154Glu
ENST00000697292.1:c.706A>G	ENSP00000513229.1:p.Lys236Glu
ENST00000697293.1:c.706A>G	ENSP00000513230.1:p.Lys236Glu
ENST00000697294.1:c.*317A>G	ENSP00000513231.1:n.*317A>G
ENST00000697295.1:c.*15A>G	ENSP00000513232.1:n.*15A>G
ENST00000697296.1:c.*374A>G	ENSP00000513233.1:n.*374A>G
ENST00000697297.1:n.2491A>G
ENST00000697298.1:c.460A>G	ENSP00000513234.1:p.Lys154Glu
ENST00000697299.1:c.460A>G	ENSP00000513235.1:p.Lys154Glu
ENST00000697300.1:c.*310A>G	ENSP00000513236.1:n.*310A>G
ENST00000697301.1:c.*227A>G	ENSP00000513237.1:n.*227A>G
ENST00000697302.1:c.*227A>G	ENSP00000513238.1:n.*227A>G
ENST00000697303.1:c.*310A>G	ENSP00000513239.1:n.*310A>G
ENST00000697304.1:c.585-6047A>G	ENSP00000513240.1:n.585-6047A>G
ENST00000697306.1:c.480+10180A>G	ENSP00000513241.1:n.480+10180A>G
ENST00000697307.1:c.706A>G	ENSP00000513242.1:p.Lys236Glu
ENST00000697308.1:c.706A>G	ENSP00000513243.1:p.Lys236Glu
ENST00000697309.1:c.706A>G	ENSP00000513244.1:p.Lys236Glu
ENST00000697310.1:c.706A>G	ENSP00000513245.1:p.Lys236Glu
ENST00000697311.1:c.706A>G	ENSP00000513246.1:p.Lys236Glu
ENST00000697312.1:c.*104A>G	ENSP00000513247.1:n.*104A>G
ENST00000697313.1:n.2497A>G
ENST00000697314.1:n.2497A>G
ENST00000697315.1:c.706A>G	ENSP00000513248.1:p.Lys236Glu
ENST00000697316.1:n.827A>G
ENST00000697317.1:n.816A>G
ENST00000697318.1:n.818A>G
ENST00000265433.8:c.706A>G MANE Select	ENSP00000265433.4:p.Lys236Glu
ENST00000265433.7:c.706A>G	ENSP00000265433.3:p.Lys236Glu
ENST00000396252.6:c.*579A>G	ENSP00000379551.2:n.*579A>G
ENST00000409330.5:c.460A>G	ENSP00000386924.1:p.Lys154Glu
ENST00000517772.5:c.460A>G	ENSP00000428717.1:p.Lys154Glu
ENST00000519426.5:c.442A>G	ENSP00000430983.1:p.Lys148Glu
NM_001024688.2:c.460A>G	NP_001019859.1:p.Lys154Glu
NM_002485.4:c.706A>G , LRG_158t1:c.706A>G	NP_002476.2:p.Lys236Glu
XM_011517044.1:c.682A>G	XP_011515346.1:p.Lys228Glu
XM_011517045.1:c.460A>G	XP_011515347.1:p.Lys154Glu
XM_011517046.1:c.706A>G	XP_011515348.1:p.Lys236Glu
XR_928335.1:n.843A>G
XM_017013460.1:c.-174A>G	XP_016868949.1:n.-174A>G
XM_017013462.2:c.-174A>G	XP_016868951.1:n.-174A>G
XM_024447163.1:c.460A>G	XP_024302931.1:p.Lys154Glu
XM_024447164.1:c.460A>G	XP_024302932.1:p.Lys154Glu
XM_024447165.1:c.-174A>G	XP_024302933.1:n.-174A>G
NM_002485.5:c.706A>G MANE Select	NP_002476.2:p.Lys236Glu
NM_001024688.3:c.460A>G	NP_001019859.1:p.Lys154Glu