Canonical Allele Identifier: CA4802881

Gene: NBN

Linked Data

• ClinVar Variation Id: 584728
• ClinVar RCV Id: RCV000709062
• dbSNP Id: rs768822147
• ExAC: 8:90982682 C / G
• gnomAD v2: 8-90982682-C-G
• gnomAD v4: 8-89970454-C-G
• MyVariant Identifiers: chr8:g.90982682C>G (hg19) ; chr8:g.89970454C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970454C>G , CM000670.2:g.89970454C>G	GRCh38
NC_000008.10:g.90982682C>G , CM000670.1:g.90982682C>G	GRCh37
NC_000008.9:g.91051858C>G	NCBI36
NG_008860.1:g.19218G>C , LRG_158:g.19218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2108G>C
ENST00000517337.2:c.560G>C	ENSP00000429971.2:p.Cys187Ser
ENST00000523444.2:c.560G>C	ENSP00000428252.2:p.Cys187Ser
ENST00000697292.1:c.806G>C	ENSP00000513229.1:p.Cys269Ser
ENST00000697293.1:c.806G>C	ENSP00000513230.1:p.Cys269Ser
ENST00000697294.1:c.*417G>C	ENSP00000513231.1:n.*417G>C
ENST00000697295.1:c.*115G>C	ENSP00000513232.1:n.*115G>C
ENST00000697296.1:c.*474G>C	ENSP00000513233.1:n.*474G>C
ENST00000697297.1:n.2591G>C
ENST00000697298.1:c.560G>C	ENSP00000513234.1:p.Cys187Ser
ENST00000697299.1:c.560G>C	ENSP00000513235.1:p.Cys187Ser
ENST00000697300.1:c.*410G>C	ENSP00000513236.1:n.*410G>C
ENST00000697301.1:c.*327G>C	ENSP00000513237.1:n.*327G>C
ENST00000697302.1:c.*327G>C	ENSP00000513238.1:n.*327G>C
ENST00000697303.1:c.*410G>C	ENSP00000513239.1:n.*410G>C
ENST00000697304.1:c.585-5947G>C	ENSP00000513240.1:n.585-5947G>C
ENST00000697306.1:c.480+10280G>C	ENSP00000513241.1:n.480+10280G>C
ENST00000697307.1:c.806G>C	ENSP00000513242.1:p.Cys269Ser
ENST00000697308.1:c.806G>C	ENSP00000513243.1:p.Cys269Ser
ENST00000697309.1:c.806G>C	ENSP00000513244.1:p.Cys269Ser
ENST00000697310.1:c.806G>C	ENSP00000513245.1:p.Cys269Ser
ENST00000697311.1:c.806G>C	ENSP00000513246.1:p.Cys269Ser
ENST00000697312.1:c.*204G>C	ENSP00000513247.1:n.*204G>C
ENST00000697313.1:n.2597G>C
ENST00000697314.1:n.2597G>C
ENST00000697315.1:c.806G>C	ENSP00000513248.1:p.Cys269Ser
ENST00000697316.1:n.927G>C
ENST00000697317.1:n.916G>C
ENST00000697318.1:n.918G>C
ENST00000265433.8:c.806G>C MANE Select	ENSP00000265433.4:p.Cys269Ser
ENST00000265433.7:c.806G>C	ENSP00000265433.3:p.Cys269Ser
ENST00000396252.6:c.*679G>C	ENSP00000379551.2:n.*679G>C
ENST00000409330.5:c.560G>C	ENSP00000386924.1:p.Cys187Ser
NM_001024688.2:c.560G>C	NP_001019859.1:p.Cys187Ser
NM_002485.4:c.806G>C , LRG_158t1:c.806G>C	NP_002476.2:p.Cys269Ser
XM_011517044.1:c.782G>C	XP_011515346.1:p.Cys261Ser
XM_011517045.1:c.560G>C	XP_011515347.1:p.Cys187Ser
XM_011517046.1:c.806G>C	XP_011515348.1:p.Cys269Ser
XR_928335.1:n.943G>C
XM_017013460.1:c.-74G>C	XP_016868949.1:n.-74G>C
XM_017013462.2:c.-74G>C	XP_016868951.1:n.-74G>C
XM_024447163.1:c.560G>C	XP_024302931.1:p.Cys187Ser
XM_024447164.1:c.560G>C	XP_024302932.1:p.Cys187Ser
XM_024447165.1:c.-74G>C	XP_024302933.1:n.-74G>C
NM_002485.5:c.806G>C MANE Select	NP_002476.2:p.Cys269Ser
NM_001024688.3:c.560G>C	NP_001019859.1:p.Cys187Ser