Canonical Allele Identifier: CA4802843

Gene: NBN

Linked Data

• dbSNP Id: rs781711300
• ExAC: 8:90976661 T / C
• gnomAD v2: 8-90976661-T-C
• gnomAD v4: 8-89964433-T-C
• MyVariant Identifiers: chr8:g.90976661T>C (hg19) ; chr8:g.89964433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964433T>C , CM000670.2:g.89964433T>C	GRCh38
NC_000008.10:g.90976661T>C , CM000670.1:g.90976661T>C	GRCh37
NC_000008.9:g.91045837T>C	NCBI36
NG_008860.1:g.25239A>G , LRG_158:g.25239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2273A>G
ENST00000517337.2:c.725A>G	ENSP00000429971.2:p.Asp242Gly
ENST00000523444.2:c.725A>G	ENSP00000428252.2:p.Asp242Gly
ENST00000697292.1:c.971A>G	ENSP00000513229.1:p.Asp324Gly
ENST00000697293.1:c.971A>G	ENSP00000513230.1:p.Asp324Gly
ENST00000697294.1:c.*582A>G	ENSP00000513231.1:n.*582A>G
ENST00000697295.1:c.*280A>G	ENSP00000513232.1:n.*280A>G
ENST00000697296.1:c.*639A>G	ENSP00000513233.1:n.*639A>G
ENST00000697297.1:n.2756A>G
ENST00000697298.1:c.725A>G	ENSP00000513234.1:p.Asp242Gly
ENST00000697299.1:c.725A>G	ENSP00000513235.1:p.Asp242Gly
ENST00000697300.1:c.*575A>G	ENSP00000513236.1:n.*575A>G
ENST00000697301.1:c.*492A>G	ENSP00000513237.1:n.*492A>G
ENST00000697302.1:c.*492A>G	ENSP00000513238.1:n.*492A>G
ENST00000697303.1:c.*575A>G	ENSP00000513239.1:n.*575A>G
ENST00000697304.1:c.659A>G	ENSP00000513240.1:p.Asp220Gly
ENST00000697306.1:c.481-5579A>G	ENSP00000513241.1:n.481-5579A>G
ENST00000697307.1:c.971A>G	ENSP00000513242.1:p.Asp324Gly
ENST00000697308.1:c.971A>G	ENSP00000513243.1:p.Asp324Gly
ENST00000697309.1:c.971A>G	ENSP00000513244.1:p.Asp324Gly
ENST00000697310.1:c.971A>G	ENSP00000513245.1:p.Asp324Gly
ENST00000697311.1:c.971A>G	ENSP00000513246.1:p.Asp324Gly
ENST00000697312.1:c.*369A>G	ENSP00000513247.1:n.*369A>G
ENST00000697313.1:n.2687+5931A>G
ENST00000697314.1:n.2762A>G
ENST00000697315.1:c.971A>G	ENSP00000513248.1:p.Asp324Gly
ENST00000697316.1:n.1092A>G
ENST00000697317.1:n.1081A>G
ENST00000697318.1:n.1083A>G
ENST00000265433.8:c.971A>G MANE Select	ENSP00000265433.4:p.Asp324Gly
ENST00000265433.7:c.971A>G	ENSP00000265433.3:p.Asp324Gly
ENST00000396252.6:c.*844A>G	ENSP00000379551.2:n.*844A>G
ENST00000409330.5:c.725A>G	ENSP00000386924.1:p.Asp242Gly
NM_001024688.2:c.725A>G	NP_001019859.1:p.Asp242Gly
NM_002485.4:c.971A>G , LRG_158t1:c.971A>G	NP_002476.2:p.Asp324Gly
XM_011517044.1:c.947A>G	XP_011515346.1:p.Asp316Gly
XM_011517045.1:c.725A>G	XP_011515347.1:p.Asp242Gly
XM_011517046.1:c.971A>G	XP_011515348.1:p.Asp324Gly
XR_928335.1:n.1108A>G
XM_017013460.1:c.92A>G	XP_016868949.1:p.Asp31Gly
XM_017013462.2:c.92A>G	XP_016868951.1:p.Asp31Gly
XM_024447163.1:c.725A>G	XP_024302931.1:p.Asp242Gly
XM_024447164.1:c.725A>G	XP_024302932.1:p.Asp242Gly
XM_024447165.1:c.92A>G	XP_024302933.1:p.Asp31Gly
NM_002485.5:c.971A>G MANE Select	NP_002476.2:p.Asp324Gly
NM_001024688.3:c.725A>G	NP_001019859.1:p.Asp242Gly