Canonical Allele Identifier: CA461830800

Gene: NBN

Linked Data

• ClinVar Variation Id: 822419
• ClinVar RCV Id: RCV001017773 ; RCV001456162
• dbSNP Id: rs1586086525
• gnomAD v4: 8-89970417-T-C
• MyVariant Identifiers: chr8:g.90982645T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970417T>C , CM000670.2:g.89970417T>C	GRCh38
NC_000008.10:g.90982645T>C , CM000670.1:g.90982645T>C	GRCh37
NC_000008.9:g.91051821T>C	NCBI36
NG_008860.1:g.19255A>G , LRG_158:g.19255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2145A>G
ENST00000517337.2:c.597A>G	ENSP00000429971.2:p.Leu199=
ENST00000523444.2:c.597A>G	ENSP00000428252.2:p.Leu199=
ENST00000697292.1:c.843A>G	ENSP00000513229.1:p.Leu281=
ENST00000697293.1:c.843A>G	ENSP00000513230.1:p.Leu281=
ENST00000697294.1:c.*454A>G	ENSP00000513231.1:n.*454A>G
ENST00000697295.1:c.*152A>G	ENSP00000513232.1:n.*152A>G
ENST00000697296.1:c.*511A>G	ENSP00000513233.1:n.*511A>G
ENST00000697297.1:n.2628A>G
ENST00000697298.1:c.597A>G	ENSP00000513234.1:p.Leu199=
ENST00000697299.1:c.597A>G	ENSP00000513235.1:p.Leu199=
ENST00000697300.1:c.*447A>G	ENSP00000513236.1:n.*447A>G
ENST00000697301.1:c.*364A>G	ENSP00000513237.1:n.*364A>G
ENST00000697302.1:c.*364A>G	ENSP00000513238.1:n.*364A>G
ENST00000697303.1:c.*447A>G	ENSP00000513239.1:n.*447A>G
ENST00000697304.1:c.585-5910A>G	ENSP00000513240.1:n.585-5910A>G
ENST00000697306.1:c.480+10317A>G	ENSP00000513241.1:n.480+10317A>G
ENST00000697307.1:c.843A>G	ENSP00000513242.1:p.Leu281=
ENST00000697308.1:c.843A>G	ENSP00000513243.1:p.Leu281=
ENST00000697309.1:c.843A>G	ENSP00000513244.1:p.Leu281=
ENST00000697310.1:c.843A>G	ENSP00000513245.1:p.Leu281=
ENST00000697311.1:c.843A>G	ENSP00000513246.1:p.Leu281=
ENST00000697312.1:c.*241A>G	ENSP00000513247.1:n.*241A>G
ENST00000697313.1:n.2634A>G
ENST00000697314.1:n.2634A>G
ENST00000697315.1:c.843A>G	ENSP00000513248.1:p.Leu281=
ENST00000697316.1:n.964A>G
ENST00000697317.1:n.953A>G
ENST00000697318.1:n.955A>G
ENST00000265433.8:c.843A>G MANE Select	ENSP00000265433.4:p.Leu281=
ENST00000265433.7:c.843A>G	ENSP00000265433.3:p.Leu281=
ENST00000396252.6:c.*716A>G	ENSP00000379551.2:n.*716A>G
ENST00000409330.5:c.597A>G	ENSP00000386924.1:p.Leu199=
NM_001024688.2:c.597A>G	NP_001019859.1:p.Leu199=
NM_002485.4:c.843A>G , LRG_158t1:c.843A>G	NP_002476.2:p.Leu281=
XM_011517044.1:c.819A>G	XP_011515346.1:p.Leu273=
XM_011517045.1:c.597A>G	XP_011515347.1:p.Leu199=
XM_011517046.1:c.843A>G	XP_011515348.1:p.Leu281=
XR_928335.1:n.980A>G
XM_017013460.1:c.-37A>G	XP_016868949.1:n.-37A>G
XM_017013462.2:c.-37A>G	XP_016868951.1:n.-37A>G
XM_024447163.1:c.597A>G	XP_024302931.1:p.Leu199=
XM_024447164.1:c.597A>G	XP_024302932.1:p.Leu199=
XM_024447165.1:c.-37A>G	XP_024302933.1:n.-37A>G
NM_002485.5:c.843A>G MANE Select	NP_002476.2:p.Leu281=
NM_001024688.3:c.597A>G	NP_001019859.1:p.Leu199=