Canonical Allele Identifier: CA4802883

Gene: NBN

Linked Data

• ClinVar Variation Id: 827389
• ClinVar RCV Id: RCV001027059 ; RCV001066171
• dbSNP Id: rs747837246
• ExAC: 8:90982688 C / T
• gnomAD v2: 8-90982688-C-T
• gnomAD v4: 8-89970460-C-T
• MyVariant Identifiers: chr8:g.90982688C>T (hg19) ; chr8:g.89970460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970460C>T , CM000670.2:g.89970460C>T	GRCh38
NC_000008.10:g.90982688C>T , CM000670.1:g.90982688C>T	GRCh37
NC_000008.9:g.91051864C>T	NCBI36
NG_008860.1:g.19212G>A , LRG_158:g.19212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2102G>A
ENST00000517337.2:c.554G>A	ENSP00000429971.2:p.Gly185Glu
ENST00000523444.2:c.554G>A	ENSP00000428252.2:p.Gly185Glu
ENST00000697292.1:c.800G>A	ENSP00000513229.1:p.Gly267Glu
ENST00000697293.1:c.800G>A	ENSP00000513230.1:p.Gly267Glu
ENST00000697294.1:c.*411G>A	ENSP00000513231.1:n.*411G>A
ENST00000697295.1:c.*109G>A	ENSP00000513232.1:n.*109G>A
ENST00000697296.1:c.*468G>A	ENSP00000513233.1:n.*468G>A
ENST00000697297.1:n.2585G>A
ENST00000697298.1:c.554G>A	ENSP00000513234.1:p.Gly185Glu
ENST00000697299.1:c.554G>A	ENSP00000513235.1:p.Gly185Glu
ENST00000697300.1:c.*404G>A	ENSP00000513236.1:n.*404G>A
ENST00000697301.1:c.*321G>A	ENSP00000513237.1:n.*321G>A
ENST00000697302.1:c.*321G>A	ENSP00000513238.1:n.*321G>A
ENST00000697303.1:c.*404G>A	ENSP00000513239.1:n.*404G>A
ENST00000697304.1:c.585-5953G>A	ENSP00000513240.1:n.585-5953G>A
ENST00000697306.1:c.480+10274G>A	ENSP00000513241.1:n.480+10274G>A
ENST00000697307.1:c.800G>A	ENSP00000513242.1:p.Gly267Glu
ENST00000697308.1:c.800G>A	ENSP00000513243.1:p.Gly267Glu
ENST00000697309.1:c.800G>A	ENSP00000513244.1:p.Gly267Glu
ENST00000697310.1:c.800G>A	ENSP00000513245.1:p.Gly267Glu
ENST00000697311.1:c.800G>A	ENSP00000513246.1:p.Gly267Glu
ENST00000697312.1:c.*198G>A	ENSP00000513247.1:n.*198G>A
ENST00000697313.1:n.2591G>A
ENST00000697314.1:n.2591G>A
ENST00000697315.1:c.800G>A	ENSP00000513248.1:p.Gly267Glu
ENST00000697316.1:n.921G>A
ENST00000697317.1:n.910G>A
ENST00000697318.1:n.912G>A
ENST00000265433.8:c.800G>A MANE Select	ENSP00000265433.4:p.Gly267Glu
ENST00000265433.7:c.800G>A	ENSP00000265433.3:p.Gly267Glu
ENST00000396252.6:c.*673G>A	ENSP00000379551.2:n.*673G>A
ENST00000409330.5:c.554G>A	ENSP00000386924.1:p.Gly185Glu
NM_001024688.2:c.554G>A	NP_001019859.1:p.Gly185Glu
NM_002485.4:c.800G>A , LRG_158t1:c.800G>A	NP_002476.2:p.Gly267Glu
XM_011517044.1:c.776G>A	XP_011515346.1:p.Gly259Glu
XM_011517045.1:c.554G>A	XP_011515347.1:p.Gly185Glu
XM_011517046.1:c.800G>A	XP_011515348.1:p.Gly267Glu
XR_928335.1:n.937G>A
XM_017013460.1:c.-80G>A	XP_016868949.1:n.-80G>A
XM_017013462.2:c.-80G>A	XP_016868951.1:n.-80G>A
XM_024447163.1:c.554G>A	XP_024302931.1:p.Gly185Glu
XM_024447164.1:c.554G>A	XP_024302932.1:p.Gly185Glu
XM_024447165.1:c.-80G>A	XP_024302933.1:n.-80G>A
NM_002485.5:c.800G>A MANE Select	NP_002476.2:p.Gly267Glu
NM_001024688.3:c.554G>A	NP_001019859.1:p.Gly185Glu