Canonical Allele Identifier: CA371658254

Gene: NBN

Linked Data

• ClinVar Variation Id: 1764631
• ClinVar RCV Id: RCV002373645
• MyVariant Identifiers: chr8:g.90982611T>A (hg19) ; chr8:g.89970383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970383T>A , CM000670.2:g.89970383T>A	GRCh38
NC_000008.10:g.90982611T>A , CM000670.1:g.90982611T>A	GRCh37
NC_000008.9:g.91051787T>A	NCBI36
NG_008860.1:g.19289A>T , LRG_158:g.19289A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2179A>T
ENST00000517337.2:c.631A>T	ENSP00000429971.2:p.Ile211Leu
ENST00000523444.2:c.631A>T	ENSP00000428252.2:p.Ile211Leu
ENST00000697292.1:c.877A>T	ENSP00000513229.1:p.Ile293Leu
ENST00000697293.1:c.877A>T	ENSP00000513230.1:p.Ile293Leu
ENST00000697294.1:c.*488A>T	ENSP00000513231.1:n.*488A>T
ENST00000697295.1:c.*186A>T	ENSP00000513232.1:n.*186A>T
ENST00000697296.1:c.*545A>T	ENSP00000513233.1:n.*545A>T
ENST00000697297.1:n.2662A>T
ENST00000697298.1:c.631A>T	ENSP00000513234.1:p.Ile211Leu
ENST00000697299.1:c.631A>T	ENSP00000513235.1:p.Ile211Leu
ENST00000697300.1:c.*481A>T	ENSP00000513236.1:n.*481A>T
ENST00000697301.1:c.*398A>T	ENSP00000513237.1:n.*398A>T
ENST00000697302.1:c.*398A>T	ENSP00000513238.1:n.*398A>T
ENST00000697303.1:c.*481A>T	ENSP00000513239.1:n.*481A>T
ENST00000697304.1:c.585-5876A>T	ENSP00000513240.1:n.585-5876A>T
ENST00000697306.1:c.480+10351A>T	ENSP00000513241.1:n.480+10351A>T
ENST00000697307.1:c.877A>T	ENSP00000513242.1:p.Ile293Leu
ENST00000697308.1:c.877A>T	ENSP00000513243.1:p.Ile293Leu
ENST00000697309.1:c.877A>T	ENSP00000513244.1:p.Ile293Leu
ENST00000697310.1:c.877A>T	ENSP00000513245.1:p.Ile293Leu
ENST00000697311.1:c.877A>T	ENSP00000513246.1:p.Ile293Leu
ENST00000697312.1:c.*275A>T	ENSP00000513247.1:n.*275A>T
ENST00000697313.1:n.2668A>T
ENST00000697314.1:n.2668A>T
ENST00000697315.1:c.877A>T	ENSP00000513248.1:p.Ile293Leu
ENST00000697316.1:n.998A>T
ENST00000697317.1:n.987A>T
ENST00000697318.1:n.989A>T
ENST00000265433.8:c.877A>T MANE Select	ENSP00000265433.4:p.Ile293Leu
ENST00000265433.7:c.877A>T	ENSP00000265433.3:p.Ile293Leu
ENST00000396252.6:c.*750A>T	ENSP00000379551.2:n.*750A>T
ENST00000409330.5:c.631A>T	ENSP00000386924.1:p.Ile211Leu
NM_001024688.2:c.631A>T	NP_001019859.1:p.Ile211Leu
NM_002485.4:c.877A>T , LRG_158t1:c.877A>T	NP_002476.2:p.Ile293Leu
XM_011517044.1:c.853A>T	XP_011515346.1:p.Ile285Leu
XM_011517045.1:c.631A>T	XP_011515347.1:p.Ile211Leu
XM_011517046.1:c.877A>T	XP_011515348.1:p.Ile293Leu
XR_928335.1:n.1014A>T
XM_017013460.1:c.-3A>T	XP_016868949.1:n.-3A>T
XM_017013462.2:c.-3A>T	XP_016868951.1:n.-3A>T
XM_024447163.1:c.631A>T	XP_024302931.1:p.Ile211Leu
XM_024447164.1:c.631A>T	XP_024302932.1:p.Ile211Leu
XM_024447165.1:c.-3A>T	XP_024302933.1:n.-3A>T
NM_002485.5:c.877A>T MANE Select	NP_002476.2:p.Ile293Leu
NM_001024688.3:c.631A>T	NP_001019859.1:p.Ile211Leu