Canonical Allele Identifier: CA181257891

Gene: NBN

Linked Data

• ClinVar Variation Id: 566726
• ClinVar RCV Id: RCV000686615 ; RCV001525020
• dbSNP Id: rs768431216
• gnomAD v4: 8-89953473-G-C
• MyVariant Identifiers: chr8:g.90965701G>C (hg19) ; chr8:g.89953473G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953473G>C , CM000670.2:g.89953473G>C	GRCh38
NC_000008.10:g.90965701G>C , CM000670.1:g.90965701G>C	GRCh37
NC_000008.9:g.91034877G>C	NCBI36
NG_008860.1:g.36199C>G , LRG_158:g.36199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2918C>G
ENST00000517337.2:c.1370C>G	ENSP00000429971.2:p.Ser457Cys
ENST00000523444.2:c.1370C>G	ENSP00000428252.2:p.Ser457Cys
ENST00000697292.1:c.1616C>G	ENSP00000513229.1:p.Ser539Cys
ENST00000697293.1:c.1616C>G	ENSP00000513230.1:p.Ser539Cys
ENST00000697294.1:c.*1227C>G	ENSP00000513231.1:n.*1227C>G
ENST00000697295.1:c.*925C>G	ENSP00000513232.1:n.*925C>G
ENST00000697296.1:c.*1284C>G	ENSP00000513233.1:n.*1284C>G
ENST00000697297.1:n.3401C>G
ENST00000697298.1:c.1370C>G	ENSP00000513234.1:p.Ser457Cys
ENST00000697299.1:c.1370C>G	ENSP00000513235.1:p.Ser457Cys
ENST00000697300.1:c.*1220C>G	ENSP00000513236.1:n.*1220C>G
ENST00000697301.1:c.*1137C>G	ENSP00000513237.1:n.*1137C>G
ENST00000697302.1:c.*1137C>G	ENSP00000513238.1:n.*1137C>G
ENST00000697303.1:c.*1220C>G	ENSP00000513239.1:n.*1220C>G
ENST00000697304.1:c.1304C>G	ENSP00000513240.1:p.Ser435Cys
ENST00000697306.1:c.*616C>G	ENSP00000513241.1:n.*616C>G
ENST00000697307.1:c.1616C>G	ENSP00000513242.1:p.Ser539Cys
ENST00000697308.1:c.1616C>G	ENSP00000513243.1:p.Ser539Cys
ENST00000697309.1:c.1616C>G	ENSP00000513244.1:p.Ser539Cys
ENST00000697310.1:c.1616C>G	ENSP00000513245.1:p.Ser539Cys
ENST00000697311.1:c.1616C>G	ENSP00000513246.1:p.Ser539Cys
ENST00000697312.1:c.*1014C>G	ENSP00000513247.1:n.*1014C>G
ENST00000697313.1:n.2687+16891C>G
ENST00000697314.1:n.3407C>G
ENST00000697315.1:c.1616C>G	ENSP00000513248.1:p.Ser539Cys
ENST00000697316.1:n.1737C>G
ENST00000697317.1:n.1726C>G
ENST00000697318.1:n.1728C>G
ENST00000265433.8:c.1616C>G MANE Select	ENSP00000265433.4:p.Ser539Cys
ENST00000265433.7:c.1616C>G	ENSP00000265433.3:p.Ser539Cys
ENST00000396252.6:c.*1489C>G	ENSP00000379551.2:n.*1489C>G
ENST00000409330.5:c.1370C>G	ENSP00000386924.1:p.Ser457Cys
NM_001024688.2:c.1370C>G	NP_001019859.1:p.Ser457Cys
NM_002485.4:c.1616C>G , LRG_158t1:c.1616C>G	NP_002476.2:p.Ser539Cys
XM_011517044.1:c.1592C>G	XP_011515346.1:p.Ser531Cys
XM_011517045.1:c.1370C>G	XP_011515347.1:p.Ser457Cys
XR_928335.1:n.1755C>G
XM_017013460.1:c.737C>G	XP_016868949.1:p.Ser246Cys
XM_017013462.2:c.737C>G	XP_016868951.1:p.Ser246Cys
XM_024447163.1:c.1370C>G	XP_024302931.1:p.Ser457Cys
XM_024447164.1:c.1370C>G	XP_024302932.1:p.Ser457Cys
XM_024447165.1:c.737C>G	XP_024302933.1:p.Ser246Cys
NM_002485.5:c.1616C>G MANE Select	NP_002476.2:p.Ser539Cys
NM_001024688.3:c.1370C>G	NP_001019859.1:p.Ser457Cys