Canonical Allele Identifier: CA371658936

Gene: NBN

Linked Data

• ClinVar Variation Id: 1723836
• ClinVar RCV Id: RCV002306397 ; RCV003164532
• MyVariant Identifiers: chr8:g.90983410A>C (hg19) ; chr8:g.89971182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971182A>C , CM000670.2:g.89971182A>C	GRCh38
NC_000008.10:g.90983410A>C , CM000670.1:g.90983410A>C	GRCh37
NC_000008.9:g.91052586A>C	NCBI36
NG_008860.1:g.18490T>G , LRG_158:g.18490T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1995T>G
ENST00000517337.2:c.447T>G	ENSP00000429971.2:p.Asn149Lys
ENST00000523444.2:c.447T>G	ENSP00000428252.2:p.Asn149Lys
ENST00000697292.1:c.693T>G	ENSP00000513229.1:p.Asn231Lys
ENST00000697293.1:c.693T>G	ENSP00000513230.1:p.Asn231Lys
ENST00000697294.1:c.*304T>G	ENSP00000513231.1:n.*304T>G
ENST00000697295.1:c.*2T>G	ENSP00000513232.1:n.*2T>G
ENST00000697296.1:c.*361T>G	ENSP00000513233.1:n.*361T>G
ENST00000697297.1:n.2478T>G
ENST00000697298.1:c.447T>G	ENSP00000513234.1:p.Asn149Lys
ENST00000697299.1:c.447T>G	ENSP00000513235.1:p.Asn149Lys
ENST00000697300.1:c.*297T>G	ENSP00000513236.1:n.*297T>G
ENST00000697301.1:c.*214T>G	ENSP00000513237.1:n.*214T>G
ENST00000697302.1:c.*214T>G	ENSP00000513238.1:n.*214T>G
ENST00000697303.1:c.*297T>G	ENSP00000513239.1:n.*297T>G
ENST00000697304.1:c.585-6675T>G	ENSP00000513240.1:n.585-6675T>G
ENST00000697306.1:c.480+9552T>G	ENSP00000513241.1:n.480+9552T>G
ENST00000697307.1:c.693T>G	ENSP00000513242.1:p.Asn231Lys
ENST00000697308.1:c.693T>G	ENSP00000513243.1:p.Asn231Lys
ENST00000697309.1:c.693T>G	ENSP00000513244.1:p.Asn231Lys
ENST00000697310.1:c.693T>G	ENSP00000513245.1:p.Asn231Lys
ENST00000697311.1:c.693T>G	ENSP00000513246.1:p.Asn231Lys
ENST00000697312.1:c.*91T>G	ENSP00000513247.1:n.*91T>G
ENST00000697313.1:n.2484T>G
ENST00000697314.1:n.2484T>G
ENST00000697315.1:c.693T>G	ENSP00000513248.1:p.Asn231Lys
ENST00000697316.1:n.814T>G
ENST00000697317.1:n.803T>G
ENST00000697318.1:n.805T>G
ENST00000265433.8:c.693T>G MANE Select	ENSP00000265433.4:p.Asn231Lys
ENST00000265433.7:c.693T>G	ENSP00000265433.3:p.Asn231Lys
ENST00000396252.6:c.*566T>G	ENSP00000379551.2:n.*566T>G
ENST00000409330.5:c.447T>G	ENSP00000386924.1:p.Asn149Lys
ENST00000517772.5:c.447T>G	ENSP00000428717.1:p.Asn149Lys
ENST00000519426.5:c.429T>G	ENSP00000430983.1:p.Asn143Lys
NM_001024688.2:c.447T>G	NP_001019859.1:p.Asn149Lys
NM_002485.4:c.693T>G , LRG_158t1:c.693T>G	NP_002476.2:p.Asn231Lys
XM_011517044.1:c.669T>G	XP_011515346.1:p.Asn223Lys
XM_011517045.1:c.447T>G	XP_011515347.1:p.Asn149Lys
XM_011517046.1:c.693T>G	XP_011515348.1:p.Asn231Lys
XR_928335.1:n.830T>G
XM_017013460.1:c.-187T>G	XP_016868949.1:n.-187T>G
XM_017013462.2:c.-187T>G	XP_016868951.1:n.-187T>G
XM_024447163.1:c.447T>G	XP_024302931.1:p.Asn149Lys
XM_024447164.1:c.447T>G	XP_024302932.1:p.Asn149Lys
XM_024447165.1:c.-187T>G	XP_024302933.1:n.-187T>G
NM_002485.5:c.693T>G MANE Select	NP_002476.2:p.Asn231Lys
NM_001024688.3:c.447T>G	NP_001019859.1:p.Asn149Lys