Canonical Allele Identifier: CA371659175

Gene: NBN

Linked Data

• ClinVar Variation Id: 1419172
• ClinVar RCV Id: RCV001954617
• dbSNP Id: rs2129838690
• MyVariant Identifiers: chr8:g.90983468A>C (hg19) ; chr8:g.89971240A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971240A>C , CM000670.2:g.89971240A>C	GRCh38
NC_000008.10:g.90983468A>C , CM000670.1:g.90983468A>C	GRCh37
NC_000008.9:g.91052644A>C	NCBI36
NG_008860.1:g.18432T>G , LRG_158:g.18432T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1937T>G
ENST00000517337.2:c.389T>G	ENSP00000429971.2:p.Leu130Arg
ENST00000523444.2:c.389T>G	ENSP00000428252.2:p.Leu130Arg
ENST00000697292.1:c.635T>G	ENSP00000513229.1:p.Leu212Arg
ENST00000697293.1:c.635T>G	ENSP00000513230.1:p.Leu212Arg
ENST00000697294.1:c.*246T>G	ENSP00000513231.1:n.*246T>G
ENST00000697295.1:c.88T>G	ENSP00000513232.1:p.Cys30Gly
ENST00000697296.1:c.*303T>G	ENSP00000513233.1:n.*303T>G
ENST00000697297.1:n.2420T>G
ENST00000697298.1:c.389T>G	ENSP00000513234.1:p.Leu130Arg
ENST00000697299.1:c.389T>G	ENSP00000513235.1:p.Leu130Arg
ENST00000697300.1:c.*239T>G	ENSP00000513236.1:n.*239T>G
ENST00000697301.1:c.*156T>G	ENSP00000513237.1:n.*156T>G
ENST00000697302.1:c.*156T>G	ENSP00000513238.1:n.*156T>G
ENST00000697303.1:c.*239T>G	ENSP00000513239.1:n.*239T>G
ENST00000697304.1:c.585-6733T>G	ENSP00000513240.1:n.585-6733T>G
ENST00000697306.1:c.480+9494T>G	ENSP00000513241.1:n.480+9494T>G
ENST00000697307.1:c.635T>G	ENSP00000513242.1:p.Leu212Arg
ENST00000697308.1:c.635T>G	ENSP00000513243.1:p.Leu212Arg
ENST00000697309.1:c.635T>G	ENSP00000513244.1:p.Leu212Arg
ENST00000697310.1:c.635T>G	ENSP00000513245.1:p.Leu212Arg
ENST00000697311.1:c.635T>G	ENSP00000513246.1:p.Leu212Arg
ENST00000697312.1:c.*33T>G	ENSP00000513247.1:n.*33T>G
ENST00000697313.1:n.2426T>G
ENST00000697314.1:n.2426T>G
ENST00000697315.1:c.635T>G	ENSP00000513248.1:p.Leu212Arg
ENST00000697316.1:n.756T>G
ENST00000697317.1:n.745T>G
ENST00000697318.1:n.747T>G
ENST00000265433.8:c.635T>G MANE Select	ENSP00000265433.4:p.Leu212Arg
ENST00000265433.7:c.635T>G	ENSP00000265433.3:p.Leu212Arg
ENST00000396252.6:c.*508T>G	ENSP00000379551.2:n.*508T>G
ENST00000409330.5:c.389T>G	ENSP00000386924.1:p.Leu130Arg
ENST00000517772.5:c.389T>G	ENSP00000428717.1:p.Leu130Arg
ENST00000519426.5:c.371T>G	ENSP00000430983.1:p.Leu124Arg
NM_001024688.2:c.389T>G	NP_001019859.1:p.Leu130Arg
NM_002485.4:c.635T>G , LRG_158t1:c.635T>G	NP_002476.2:p.Leu212Arg
XM_011517044.1:c.611T>G	XP_011515346.1:p.Leu204Arg
XM_011517045.1:c.389T>G	XP_011515347.1:p.Leu130Arg
XM_011517046.1:c.635T>G	XP_011515348.1:p.Leu212Arg
XR_928335.1:n.772T>G
XM_017013460.1:c.-245T>G	XP_016868949.1:n.-245T>G
XM_017013462.2:c.-245T>G	XP_016868951.1:n.-245T>G
XM_024447163.1:c.389T>G	XP_024302931.1:p.Leu130Arg
XM_024447164.1:c.389T>G	XP_024302932.1:p.Leu130Arg
XM_024447165.1:c.-245T>G	XP_024302933.1:n.-245T>G
NM_002485.5:c.635T>G MANE Select	NP_002476.2:p.Leu212Arg
NM_001024688.3:c.389T>G	NP_001019859.1:p.Leu130Arg