Canonical Allele Identifier: CA371655334

Gene: NBN

Linked Data

• ClinVar Variation Id: 1367160
• ClinVar RCV Id: RCV001947149
• dbSNP Id: rs2129698759
• MyVariant Identifiers: chr8:g.90965638T>C (hg19) ; chr8:g.89953410T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953410T>C , CM000670.2:g.89953410T>C	GRCh38
NC_000008.10:g.90965638T>C , CM000670.1:g.90965638T>C	GRCh37
NC_000008.9:g.91034814T>C	NCBI36
NG_008860.1:g.36262A>G , LRG_158:g.36262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2981A>G
ENST00000517337.2:c.1433A>G	ENSP00000429971.2:p.Asp478Gly
ENST00000523444.2:c.1433A>G	ENSP00000428252.2:p.Asp478Gly
ENST00000697292.1:c.1679A>G	ENSP00000513229.1:p.Asp560Gly
ENST00000697293.1:c.1679A>G	ENSP00000513230.1:p.Asp560Gly
ENST00000697294.1:c.*1290A>G	ENSP00000513231.1:n.*1290A>G
ENST00000697295.1:c.*988A>G	ENSP00000513232.1:n.*988A>G
ENST00000697296.1:c.*1347A>G	ENSP00000513233.1:n.*1347A>G
ENST00000697297.1:n.3464A>G
ENST00000697298.1:c.1433A>G	ENSP00000513234.1:p.Asp478Gly
ENST00000697299.1:c.1433A>G	ENSP00000513235.1:p.Asp478Gly
ENST00000697300.1:c.*1283A>G	ENSP00000513236.1:n.*1283A>G
ENST00000697301.1:c.*1200A>G	ENSP00000513237.1:n.*1200A>G
ENST00000697302.1:c.*1200A>G	ENSP00000513238.1:n.*1200A>G
ENST00000697303.1:c.*1283A>G	ENSP00000513239.1:n.*1283A>G
ENST00000697304.1:c.1367A>G	ENSP00000513240.1:p.Asp456Gly
ENST00000697306.1:c.*679A>G	ENSP00000513241.1:n.*679A>G
ENST00000697307.1:c.1679A>G	ENSP00000513242.1:p.Asp560Gly
ENST00000697308.1:c.1679A>G	ENSP00000513243.1:p.Asp560Gly
ENST00000697309.1:c.1679A>G	ENSP00000513244.1:p.Asp560Gly
ENST00000697310.1:c.1679A>G	ENSP00000513245.1:p.Asp560Gly
ENST00000697311.1:c.1679A>G	ENSP00000513246.1:p.Asp560Gly
ENST00000697312.1:c.*1077A>G	ENSP00000513247.1:n.*1077A>G
ENST00000697313.1:n.2687+16954A>G
ENST00000697314.1:n.3470A>G
ENST00000697315.1:c.1679A>G	ENSP00000513248.1:p.Asp560Gly
ENST00000697316.1:n.1800A>G
ENST00000697317.1:n.1789A>G
ENST00000697318.1:n.1791A>G
ENST00000265433.8:c.1679A>G MANE Select	ENSP00000265433.4:p.Asp560Gly
ENST00000265433.7:c.1679A>G	ENSP00000265433.3:p.Asp560Gly
ENST00000396252.6:c.*1552A>G	ENSP00000379551.2:n.*1552A>G
ENST00000409330.5:c.1433A>G	ENSP00000386924.1:p.Asp478Gly
NM_001024688.2:c.1433A>G	NP_001019859.1:p.Asp478Gly
NM_002485.4:c.1679A>G , LRG_158t1:c.1679A>G	NP_002476.2:p.Asp560Gly
XM_011517044.1:c.1655A>G	XP_011515346.1:p.Asp552Gly
XM_011517045.1:c.1433A>G	XP_011515347.1:p.Asp478Gly
XR_928335.1:n.1818A>G
XM_017013460.1:c.800A>G	XP_016868949.1:p.Asp267Gly
XM_017013462.2:c.800A>G	XP_016868951.1:p.Asp267Gly
XM_024447163.1:c.1433A>G	XP_024302931.1:p.Asp478Gly
XM_024447164.1:c.1433A>G	XP_024302932.1:p.Asp478Gly
XM_024447165.1:c.800A>G	XP_024302933.1:p.Asp267Gly
NM_002485.5:c.1679A>G MANE Select	NP_002476.2:p.Asp560Gly
NM_001024688.3:c.1433A>G	NP_001019859.1:p.Asp478Gly