Canonical Allele Identifier: CA371664168

Gene: NBN

Linked Data

• ClinVar Variation Id: 2447147
• ClinVar RCV Id: RCV003165078 ; RCV003618052
• dbSNP Id: rs2129938188
• gnomAD v4: 8-89984540-C-T
• COSMIC: COSM751482
• MyVariant Identifiers: chr8:g.90996768C>T (hg19) ; chr8:g.89984540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984540C>T , CM000670.2:g.89984540C>T	GRCh38
NC_000008.10:g.90996768C>T , CM000670.1:g.90996768C>T	GRCh37
NC_000008.9:g.91065944C>T	NCBI36
NG_008860.1:g.5132G>A , LRG_158:g.5132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.126G>A
ENST00000523444.2:c.-275G>A	ENSP00000428252.2:n.-275G>A
ENST00000697292.1:c.22G>A	ENSP00000513229.1:p.Ala8Thr
ENST00000697293.1:c.22G>A	ENSP00000513230.1:p.Ala8Thr
ENST00000697294.1:c.22G>A	ENSP00000513231.1:p.Ala8Thr
ENST00000697295.1:c.22G>A	ENSP00000513232.1:p.Ala8Thr
ENST00000697296.1:c.22G>A	ENSP00000513233.1:p.Ala8Thr
ENST00000697297.1:n.128G>A
ENST00000697298.1:c.-458G>A	ENSP00000513234.1:n.-458G>A
ENST00000697299.1:c.-91G>A	ENSP00000513235.1:n.-91G>A
ENST00000697300.1:c.-275G>A	ENSP00000513236.1:n.-275G>A
ENST00000697301.1:c.-275G>A	ENSP00000513237.1:n.-275G>A
ENST00000697302.1:c.22G>A	ENSP00000513238.1:p.Ala8Thr
ENST00000697303.1:c.22G>A	ENSP00000513239.1:p.Ala8Thr
ENST00000697304.1:c.22G>A	ENSP00000513240.1:p.Ala8Thr
ENST00000697306.1:c.22G>A	ENSP00000513241.1:p.Ala8Thr
ENST00000697307.1:c.22G>A	ENSP00000513242.1:p.Ala8Thr
ENST00000697308.1:c.22G>A	ENSP00000513243.1:p.Ala8Thr
ENST00000697309.1:c.22G>A	ENSP00000513244.1:p.Ala8Thr
ENST00000697310.1:c.22G>A	ENSP00000513245.1:p.Ala8Thr
ENST00000697311.1:c.22G>A	ENSP00000513246.1:p.Ala8Thr
ENST00000697312.1:c.22G>A	ENSP00000513247.1:p.Ala8Thr
ENST00000697313.1:n.134G>A
ENST00000697314.1:n.134G>A
ENST00000697315.1:c.22G>A	ENSP00000513248.1:p.Ala8Thr
ENST00000697316.1:n.143G>A
ENST00000697317.1:n.132G>A
ENST00000697318.1:n.134G>A
ENST00000265433.8:c.22G>A MANE Select	ENSP00000265433.4:p.Ala8Thr
ENST00000265433.7:c.22G>A	ENSP00000265433.3:p.Ala8Thr
ENST00000396252.6:c.22G>A	ENSP00000379551.2:p.Ala8Thr
ENST00000494804.1:n.126G>A
ENST00000519426.5:c.22G>A	ENSP00000430983.1:p.Ala8Thr
ENST00000523444.1:c.22G>A	ENSP00000428252.1:p.Ala8Thr
NM_001024688.2:c.-275G>A	NP_001019859.1:n.-275G>A
NM_002485.4:c.22G>A , LRG_158t1:c.22G>A	NP_002476.2:p.Ala8Thr
XM_011517046.1:c.22G>A	XP_011515348.1:p.Ala8Thr
XR_928335.1:n.159G>A
XM_017013460.1:c.-998G>A	XP_016868949.1:n.-998G>A
XM_017013462.2:c.-804G>A	XP_016868951.1:n.-804G>A
XM_024447165.1:c.-948G>A	XP_024302933.1:n.-948G>A
NM_002485.5:c.22G>A MANE Select	NP_002476.2:p.Ala8Thr
NM_001024688.3:c.-275G>A	NP_001019859.1:n.-275G>A