Canonical Allele Identifier: CA371658980

Gene: NBN

Linked Data

• ClinVar Variation Id: 1059147
• ClinVar RCV Id: RCV001368374
• dbSNP Id: rs749025721
• MyVariant Identifiers: chr8:g.90983423A>C (hg19) ; chr8:g.89971195A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971195A>C , CM000670.2:g.89971195A>C	GRCh38
NC_000008.10:g.90983423A>C , CM000670.1:g.90983423A>C	GRCh37
NC_000008.9:g.91052599A>C	NCBI36
NG_008860.1:g.18477T>G , LRG_158:g.18477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1982T>G
ENST00000517337.2:c.434T>G	ENSP00000429971.2:p.Phe145Cys
ENST00000523444.2:c.434T>G	ENSP00000428252.2:p.Phe145Cys
ENST00000697292.1:c.680T>G	ENSP00000513229.1:p.Phe227Cys
ENST00000697293.1:c.680T>G	ENSP00000513230.1:p.Phe227Cys
ENST00000697294.1:c.*291T>G	ENSP00000513231.1:n.*291T>G
ENST00000697295.1:c.133T>G	ENSP00000513232.1:p.Leu45Val
ENST00000697296.1:c.*348T>G	ENSP00000513233.1:n.*348T>G
ENST00000697297.1:n.2465T>G
ENST00000697298.1:c.434T>G	ENSP00000513234.1:p.Phe145Cys
ENST00000697299.1:c.434T>G	ENSP00000513235.1:p.Phe145Cys
ENST00000697300.1:c.*284T>G	ENSP00000513236.1:n.*284T>G
ENST00000697301.1:c.*201T>G	ENSP00000513237.1:n.*201T>G
ENST00000697302.1:c.*201T>G	ENSP00000513238.1:n.*201T>G
ENST00000697303.1:c.*284T>G	ENSP00000513239.1:n.*284T>G
ENST00000697304.1:c.585-6688T>G	ENSP00000513240.1:n.585-6688T>G
ENST00000697306.1:c.480+9539T>G	ENSP00000513241.1:n.480+9539T>G
ENST00000697307.1:c.680T>G	ENSP00000513242.1:p.Phe227Cys
ENST00000697308.1:c.680T>G	ENSP00000513243.1:p.Phe227Cys
ENST00000697309.1:c.680T>G	ENSP00000513244.1:p.Phe227Cys
ENST00000697310.1:c.680T>G	ENSP00000513245.1:p.Phe227Cys
ENST00000697311.1:c.680T>G	ENSP00000513246.1:p.Phe227Cys
ENST00000697312.1:c.*78T>G	ENSP00000513247.1:n.*78T>G
ENST00000697313.1:n.2471T>G
ENST00000697314.1:n.2471T>G
ENST00000697315.1:c.680T>G	ENSP00000513248.1:p.Phe227Cys
ENST00000697316.1:n.801T>G
ENST00000697317.1:n.790T>G
ENST00000697318.1:n.792T>G
ENST00000265433.8:c.680T>G MANE Select	ENSP00000265433.4:p.Phe227Cys
ENST00000265433.7:c.680T>G	ENSP00000265433.3:p.Phe227Cys
ENST00000396252.6:c.*553T>G	ENSP00000379551.2:n.*553T>G
ENST00000409330.5:c.434T>G	ENSP00000386924.1:p.Phe145Cys
ENST00000517772.5:c.434T>G	ENSP00000428717.1:p.Phe145Cys
ENST00000519426.5:c.416T>G	ENSP00000430983.1:p.Phe139Cys
NM_001024688.2:c.434T>G	NP_001019859.1:p.Phe145Cys
NM_002485.4:c.680T>G , LRG_158t1:c.680T>G	NP_002476.2:p.Phe227Cys
XM_011517044.1:c.656T>G	XP_011515346.1:p.Phe219Cys
XM_011517045.1:c.434T>G	XP_011515347.1:p.Phe145Cys
XM_011517046.1:c.680T>G	XP_011515348.1:p.Phe227Cys
XR_928335.1:n.817T>G
XM_017013460.1:c.-200T>G	XP_016868949.1:n.-200T>G
XM_017013462.2:c.-200T>G	XP_016868951.1:n.-200T>G
XM_024447163.1:c.434T>G	XP_024302931.1:p.Phe145Cys
XM_024447164.1:c.434T>G	XP_024302932.1:p.Phe145Cys
XM_024447165.1:c.-200T>G	XP_024302933.1:n.-200T>G
NM_002485.5:c.680T>G MANE Select	NP_002476.2:p.Phe227Cys
NM_001024688.3:c.434T>G	NP_001019859.1:p.Phe145Cys