Canonical Allele Identifier: CA193540

Gene: NBN

Linked Data

• ClinVar Variation Id: 185976
• ClinVar RCV Id: RCV000165493
• dbSNP Id: rs786202604
• MyVariant Identifiers: chr8:g.90982643A>G (hg19) ; chr8:g.89970415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970415A>G , CM000670.2:g.89970415A>G	GRCh38
NC_000008.10:g.90982643A>G , CM000670.1:g.90982643A>G	GRCh37
NC_000008.9:g.91051819A>G	NCBI36
NG_008860.1:g.19257T>C , LRG_158:g.19257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2147T>C
ENST00000517337.2:c.599T>C	ENSP00000429971.2:p.Ile200Thr
ENST00000523444.2:c.599T>C	ENSP00000428252.2:p.Ile200Thr
ENST00000697292.1:c.845T>C	ENSP00000513229.1:p.Ile282Thr
ENST00000697293.1:c.845T>C	ENSP00000513230.1:p.Ile282Thr
ENST00000697294.1:c.*456T>C	ENSP00000513231.1:n.*456T>C
ENST00000697295.1:c.*154T>C	ENSP00000513232.1:n.*154T>C
ENST00000697296.1:c.*513T>C	ENSP00000513233.1:n.*513T>C
ENST00000697297.1:n.2630T>C
ENST00000697298.1:c.599T>C	ENSP00000513234.1:p.Ile200Thr
ENST00000697299.1:c.599T>C	ENSP00000513235.1:p.Ile200Thr
ENST00000697300.1:c.*449T>C	ENSP00000513236.1:n.*449T>C
ENST00000697301.1:c.*366T>C	ENSP00000513237.1:n.*366T>C
ENST00000697302.1:c.*366T>C	ENSP00000513238.1:n.*366T>C
ENST00000697303.1:c.*449T>C	ENSP00000513239.1:n.*449T>C
ENST00000697304.1:c.585-5908T>C	ENSP00000513240.1:n.585-5908T>C
ENST00000697306.1:c.480+10319T>C	ENSP00000513241.1:n.480+10319T>C
ENST00000697307.1:c.845T>C	ENSP00000513242.1:p.Ile282Thr
ENST00000697308.1:c.845T>C	ENSP00000513243.1:p.Ile282Thr
ENST00000697309.1:c.845T>C	ENSP00000513244.1:p.Ile282Thr
ENST00000697310.1:c.845T>C	ENSP00000513245.1:p.Ile282Thr
ENST00000697311.1:c.845T>C	ENSP00000513246.1:p.Ile282Thr
ENST00000697312.1:c.*243T>C	ENSP00000513247.1:n.*243T>C
ENST00000697313.1:n.2636T>C
ENST00000697314.1:n.2636T>C
ENST00000697315.1:c.845T>C	ENSP00000513248.1:p.Ile282Thr
ENST00000697316.1:n.966T>C
ENST00000697317.1:n.955T>C
ENST00000697318.1:n.957T>C
ENST00000265433.8:c.845T>C MANE Select	ENSP00000265433.4:p.Ile282Thr
ENST00000265433.7:c.845T>C	ENSP00000265433.3:p.Ile282Thr
ENST00000396252.6:c.*718T>C	ENSP00000379551.2:n.*718T>C
ENST00000409330.5:c.599T>C	ENSP00000386924.1:p.Ile200Thr
NM_001024688.2:c.599T>C	NP_001019859.1:p.Ile200Thr
NM_002485.4:c.845T>C , LRG_158t1:c.845T>C	NP_002476.2:p.Ile282Thr
XM_011517044.1:c.821T>C	XP_011515346.1:p.Ile274Thr
XM_011517045.1:c.599T>C	XP_011515347.1:p.Ile200Thr
XM_011517046.1:c.845T>C	XP_011515348.1:p.Ile282Thr
XR_928335.1:n.982T>C
XM_017013460.1:c.-35T>C	XP_016868949.1:n.-35T>C
XM_017013462.2:c.-35T>C	XP_016868951.1:n.-35T>C
XM_024447163.1:c.599T>C	XP_024302931.1:p.Ile200Thr
XM_024447164.1:c.599T>C	XP_024302932.1:p.Ile200Thr
XM_024447165.1:c.-35T>C	XP_024302933.1:n.-35T>C
NM_002485.5:c.845T>C MANE Select	NP_002476.2:p.Ile282Thr
NM_001024688.3:c.599T>C	NP_001019859.1:p.Ile200Thr