Canonical Allele Identifier: CA371659212

Gene: NBN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971247C>T , CM000670.2:g.89971247C>T	GRCh38
NC_000008.10:g.90983475C>T , CM000670.1:g.90983475C>T	GRCh37
NC_000008.9:g.91052651C>T	NCBI36
NG_008860.1:g.18425G>A , LRG_158:g.18425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1930G>A
ENST00000517337.2:c.382G>A	ENSP00000429971.2:p.Val128Ile
ENST00000523444.2:c.382G>A	ENSP00000428252.2:p.Val128Ile
ENST00000697292.1:c.628G>A	ENSP00000513229.1:p.Val210Ile
ENST00000697293.1:c.628G>A	ENSP00000513230.1:p.Val210Ile
ENST00000697294.1:c.*239G>A	ENSP00000513231.1:n.*239G>A
ENST00000697295.1:c.81G>A	ENSP00000513232.1:p.Met27Ile
ENST00000697296.1:c.*296G>A	ENSP00000513233.1:n.*296G>A
ENST00000697297.1:n.2413G>A
ENST00000697298.1:c.382G>A	ENSP00000513234.1:p.Val128Ile
ENST00000697299.1:c.382G>A	ENSP00000513235.1:p.Val128Ile
ENST00000697300.1:c.*232G>A	ENSP00000513236.1:n.*232G>A
ENST00000697301.1:c.*149G>A	ENSP00000513237.1:n.*149G>A
ENST00000697302.1:c.*149G>A	ENSP00000513238.1:n.*149G>A
ENST00000697303.1:c.*232G>A	ENSP00000513239.1:n.*232G>A
ENST00000697304.1:c.585-6740G>A	ENSP00000513240.1:n.585-6740G>A
ENST00000697306.1:c.480+9487G>A	ENSP00000513241.1:n.480+9487G>A
ENST00000697307.1:c.628G>A	ENSP00000513242.1:p.Val210Ile
ENST00000697308.1:c.628G>A	ENSP00000513243.1:p.Val210Ile
ENST00000697309.1:c.628G>A	ENSP00000513244.1:p.Val210Ile
ENST00000697310.1:c.628G>A	ENSP00000513245.1:p.Val210Ile
ENST00000697311.1:c.628G>A	ENSP00000513246.1:p.Val210Ile
ENST00000697312.1:c.*26G>A	ENSP00000513247.1:n.*26G>A
ENST00000697313.1:n.2419G>A
ENST00000697314.1:n.2419G>A
ENST00000697315.1:c.628G>A	ENSP00000513248.1:p.Val210Ile
ENST00000697316.1:n.749G>A
ENST00000697317.1:n.738G>A
ENST00000697318.1:n.740G>A
ENST00000265433.8:c.628G>A MANE Select	ENSP00000265433.4:p.Val210Ile
ENST00000265433.7:c.628G>A	ENSP00000265433.3:p.Val210Ile
ENST00000396252.6:c.*501G>A	ENSP00000379551.2:n.*501G>A
ENST00000409330.5:c.382G>A	ENSP00000386924.1:p.Val128Ile
ENST00000517772.5:c.382G>A	ENSP00000428717.1:p.Val128Ile
ENST00000519426.5:c.364G>A	ENSP00000430983.1:p.Val122Ile
NM_001024688.2:c.382G>A	NP_001019859.1:p.Val128Ile
NM_002485.4:c.628G>A , LRG_158t1:c.628G>A	NP_002476.2:p.Val210Ile
XM_011517044.1:c.604G>A	XP_011515346.1:p.Val202Ile
XM_011517045.1:c.382G>A	XP_011515347.1:p.Val128Ile
XM_011517046.1:c.628G>A	XP_011515348.1:p.Val210Ile
XR_928335.1:n.765G>A
XM_017013460.1:c.-252G>A	XP_016868949.1:n.-252G>A
XM_017013462.2:c.-252G>A	XP_016868951.1:n.-252G>A
XM_024447163.1:c.382G>A	XP_024302931.1:p.Val128Ile
XM_024447164.1:c.382G>A	XP_024302932.1:p.Val128Ile
XM_024447165.1:c.-252G>A	XP_024302933.1:n.-252G>A
NM_002485.5:c.628G>A MANE Select	NP_002476.2:p.Val210Ile
NM_001024688.3:c.382G>A	NP_001019859.1:p.Val128Ile