Canonical Allele Identifier: CA371655656

Gene: NBN

Linked Data

• ClinVar Variation Id: 1719397
• ClinVar RCV Id: RCV002303693
• MyVariant Identifiers: chr8:g.90965786T>C (hg19) ; chr8:g.89953558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953558T>C , CM000670.2:g.89953558T>C	GRCh38
NC_000008.10:g.90965786T>C , CM000670.1:g.90965786T>C	GRCh37
NC_000008.9:g.91034962T>C	NCBI36
NG_008860.1:g.36114A>G , LRG_158:g.36114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2833A>G
ENST00000517337.2:c.1285A>G	ENSP00000429971.2:p.Asn429Asp
ENST00000523444.2:c.1285A>G	ENSP00000428252.2:p.Asn429Asp
ENST00000697292.1:c.1531A>G	ENSP00000513229.1:p.Asn511Asp
ENST00000697293.1:c.1531A>G	ENSP00000513230.1:p.Asn511Asp
ENST00000697294.1:c.*1142A>G	ENSP00000513231.1:n.*1142A>G
ENST00000697295.1:c.*840A>G	ENSP00000513232.1:n.*840A>G
ENST00000697296.1:c.*1199A>G	ENSP00000513233.1:n.*1199A>G
ENST00000697297.1:n.3316A>G
ENST00000697298.1:c.1285A>G	ENSP00000513234.1:p.Asn429Asp
ENST00000697299.1:c.1285A>G	ENSP00000513235.1:p.Asn429Asp
ENST00000697300.1:c.*1135A>G	ENSP00000513236.1:n.*1135A>G
ENST00000697301.1:c.*1052A>G	ENSP00000513237.1:n.*1052A>G
ENST00000697302.1:c.*1052A>G	ENSP00000513238.1:n.*1052A>G
ENST00000697303.1:c.*1135A>G	ENSP00000513239.1:n.*1135A>G
ENST00000697304.1:c.1219A>G	ENSP00000513240.1:p.Asn407Asp
ENST00000697306.1:c.*531A>G	ENSP00000513241.1:n.*531A>G
ENST00000697307.1:c.1531A>G	ENSP00000513242.1:p.Asn511Asp
ENST00000697308.1:c.1531A>G	ENSP00000513243.1:p.Asn511Asp
ENST00000697309.1:c.1531A>G	ENSP00000513244.1:p.Asn511Asp
ENST00000697310.1:c.1531A>G	ENSP00000513245.1:p.Asn511Asp
ENST00000697311.1:c.1531A>G	ENSP00000513246.1:p.Asn511Asp
ENST00000697312.1:c.*929A>G	ENSP00000513247.1:n.*929A>G
ENST00000697313.1:n.2687+16806A>G
ENST00000697314.1:n.3322A>G
ENST00000697315.1:c.1531A>G	ENSP00000513248.1:p.Asn511Asp
ENST00000697316.1:n.1652A>G
ENST00000697317.1:n.1641A>G
ENST00000697318.1:n.1643A>G
ENST00000265433.8:c.1531A>G MANE Select	ENSP00000265433.4:p.Asn511Asp
ENST00000265433.7:c.1531A>G	ENSP00000265433.3:p.Asn511Asp
ENST00000396252.6:c.*1404A>G	ENSP00000379551.2:n.*1404A>G
ENST00000409330.5:c.1285A>G	ENSP00000386924.1:p.Asn429Asp
NM_001024688.2:c.1285A>G	NP_001019859.1:p.Asn429Asp
NM_002485.4:c.1531A>G , LRG_158t1:c.1531A>G	NP_002476.2:p.Asn511Asp
XM_011517044.1:c.1507A>G	XP_011515346.1:p.Asn503Asp
XM_011517045.1:c.1285A>G	XP_011515347.1:p.Asn429Asp
XR_928335.1:n.1670A>G
XM_017013460.1:c.652A>G	XP_016868949.1:p.Asn218Asp
XM_017013462.2:c.652A>G	XP_016868951.1:p.Asn218Asp
XM_024447163.1:c.1285A>G	XP_024302931.1:p.Asn429Asp
XM_024447164.1:c.1285A>G	XP_024302932.1:p.Asn429Asp
XM_024447165.1:c.652A>G	XP_024302933.1:p.Asn218Asp
NM_002485.5:c.1531A>G MANE Select	NP_002476.2:p.Asn511Asp
NM_001024688.3:c.1285A>G	NP_001019859.1:p.Asn429Asp