Canonical Allele Identifier: CA371674811

Gene: NBN

Linked Data

• gnomAD v4: 8-89937062-T-A
• MyVariant Identifiers: chr8:g.90949290T>A (hg19) ; chr8:g.89937062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937062T>A , CM000670.2:g.89937062T>A	GRCh38
NC_000008.10:g.90949290T>A , CM000670.1:g.90949290T>A	GRCh37
NC_000008.9:g.91018466T>A	NCBI36
NG_008860.1:g.52610A>T , LRG_158:g.52610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3618A>T
ENST00000494804.2:n.3500A>T
ENST00000517337.2:c.1952A>T	ENSP00000429971.2:p.His651Leu
ENST00000523444.2:c.1952A>T	ENSP00000428252.2:p.His651Leu
ENST00000697292.1:c.2198A>T	ENSP00000513229.1:p.His733Leu
ENST00000697293.1:c.2249A>T	ENSP00000513230.1:p.His750Leu
ENST00000697294.1:c.*1809A>T	ENSP00000513231.1:n.*1809A>T
ENST00000697295.1:c.*1507A>T	ENSP00000513232.1:n.*1507A>T
ENST00000697296.1:c.*1866A>T	ENSP00000513233.1:n.*1866A>T
ENST00000697297.1:n.3983A>T
ENST00000697298.1:c.1952A>T	ENSP00000513234.1:p.His651Leu
ENST00000697299.1:c.1952A>T	ENSP00000513235.1:p.His651Leu
ENST00000697300.1:c.*1802A>T	ENSP00000513236.1:n.*1802A>T
ENST00000697301.1:c.*1719A>T	ENSP00000513237.1:n.*1719A>T
ENST00000697302.1:c.*1719A>T	ENSP00000513238.1:n.*1719A>T
ENST00000697303.1:c.*1802A>T	ENSP00000513239.1:n.*1802A>T
ENST00000697304.1:c.1886A>T	ENSP00000513240.1:p.His629Leu
ENST00000697305.1:n.2465A>T
ENST00000697306.1:c.*2749A>T	ENSP00000513241.1:n.*2749A>T
ENST00000697307.1:c.1973A>T	ENSP00000513242.1:p.His658Leu
ENST00000697308.1:c.2129A>T	ENSP00000513243.1:p.His710Leu
ENST00000697309.1:c.2185-1450A>T	ENSP00000513244.1:n.2185-1450A>T
ENST00000697310.1:c.2198A>T	ENSP00000513245.1:p.His733Leu
ENST00000697311.1:c.*463A>T	ENSP00000513246.1:n.*463A>T
ENST00000697312.1:c.*1651A>T	ENSP00000513247.1:n.*1651A>T
ENST00000697313.1:n.2688-1450A>T
ENST00000697314.1:n.3637-1450A>T
ENST00000697315.1:c.*102A>T	ENSP00000513248.1:n.*102A>T
ENST00000697316.1:n.2319A>T
ENST00000265433.8:c.2198A>T MANE Select	ENSP00000265433.4:p.His733Leu
ENST00000265433.7:c.2198A>T	ENSP00000265433.3:p.His733Leu
ENST00000396252.6:c.*2071A>T	ENSP00000379551.2:n.*2071A>T
ENST00000409330.5:c.1952A>T	ENSP00000386924.1:p.His651Leu
ENST00000474821.1:n.286A>T
ENST00000613033.1:c.308A>T	ENSP00000484487.1:p.His103Leu
NM_001024688.2:c.1952A>T	NP_001019859.1:p.His651Leu
NM_002485.4:c.2198A>T , LRG_158t1:c.2198A>T	NP_002476.2:p.His733Leu
XM_011517044.1:c.2174A>T	XP_011515346.1:p.His725Leu
XM_011517045.1:c.1952A>T	XP_011515347.1:p.His651Leu
XM_017013460.1:c.1319A>T	XP_016868949.1:p.His440Leu
XM_017013462.2:c.1319A>T	XP_016868951.1:p.His440Leu
XM_024447163.1:c.1952A>T	XP_024302931.1:p.His651Leu
XM_024447164.1:c.1952A>T	XP_024302932.1:p.His651Leu
XM_024447165.1:c.1319A>T	XP_024302933.1:p.His440Leu
NM_002485.5:c.2198A>T MANE Select	NP_002476.2:p.His733Leu
NM_001024688.3:c.1952A>T	NP_001019859.1:p.His651Leu