Canonical Allele Identifier: CA371655212

Gene: NBN

Linked Data

• ClinVar Variation Id: 530765
• ClinVar RCV Id: RCV000636780 ; RCV002404779
• dbSNP Id: rs993110145
• MyVariant Identifiers: chr8:g.90965582T>G (hg19) ; chr8:g.89953354T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953354T>G , CM000670.2:g.89953354T>G	GRCh38
NC_000008.10:g.90965582T>G , CM000670.1:g.90965582T>G	GRCh37
NC_000008.9:g.91034758T>G	NCBI36
NG_008860.1:g.36318A>C , LRG_158:g.36318A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3037A>C
ENST00000517337.2:c.1489A>C	ENSP00000429971.2:p.Lys497Gln
ENST00000523444.2:c.1489A>C	ENSP00000428252.2:p.Lys497Gln
ENST00000697292.1:c.1735A>C	ENSP00000513229.1:p.Lys579Gln
ENST00000697293.1:c.1735A>C	ENSP00000513230.1:p.Lys579Gln
ENST00000697294.1:c.*1346A>C	ENSP00000513231.1:n.*1346A>C
ENST00000697295.1:c.*1044A>C	ENSP00000513232.1:n.*1044A>C
ENST00000697296.1:c.*1403A>C	ENSP00000513233.1:n.*1403A>C
ENST00000697297.1:n.3520A>C
ENST00000697298.1:c.1489A>C	ENSP00000513234.1:p.Lys497Gln
ENST00000697299.1:c.1489A>C	ENSP00000513235.1:p.Lys497Gln
ENST00000697300.1:c.*1339A>C	ENSP00000513236.1:n.*1339A>C
ENST00000697301.1:c.*1256A>C	ENSP00000513237.1:n.*1256A>C
ENST00000697302.1:c.*1256A>C	ENSP00000513238.1:n.*1256A>C
ENST00000697303.1:c.*1339A>C	ENSP00000513239.1:n.*1339A>C
ENST00000697304.1:c.1423A>C	ENSP00000513240.1:p.Lys475Gln
ENST00000697306.1:c.*735A>C	ENSP00000513241.1:n.*735A>C
ENST00000697307.1:c.1735A>C	ENSP00000513242.1:p.Lys579Gln
ENST00000697308.1:c.1735A>C	ENSP00000513243.1:p.Lys579Gln
ENST00000697309.1:c.1735A>C	ENSP00000513244.1:p.Lys579Gln
ENST00000697310.1:c.1735A>C	ENSP00000513245.1:p.Lys579Gln
ENST00000697311.1:c.1735A>C	ENSP00000513246.1:p.Lys579Gln
ENST00000697312.1:c.*1133A>C	ENSP00000513247.1:n.*1133A>C
ENST00000697313.1:n.2687+17010A>C
ENST00000697314.1:n.3526A>C
ENST00000697315.1:c.1735A>C	ENSP00000513248.1:p.Lys579Gln
ENST00000697316.1:n.1856A>C
ENST00000697317.1:n.1845A>C
ENST00000697318.1:n.1847A>C
ENST00000265433.8:c.1735A>C MANE Select	ENSP00000265433.4:p.Lys579Gln
ENST00000265433.7:c.1735A>C	ENSP00000265433.3:p.Lys579Gln
ENST00000396252.6:c.*1608A>C	ENSP00000379551.2:n.*1608A>C
ENST00000409330.5:c.1489A>C	ENSP00000386924.1:p.Lys497Gln
ENST00000613033.1:c.1A>C	ENSP00000484487.1:p.Lys1Gln
NM_001024688.2:c.1489A>C	NP_001019859.1:p.Lys497Gln
NM_002485.4:c.1735A>C , LRG_158t1:c.1735A>C	NP_002476.2:p.Lys579Gln
XM_011517044.1:c.1711A>C	XP_011515346.1:p.Lys571Gln
XM_011517045.1:c.1489A>C	XP_011515347.1:p.Lys497Gln
XR_928335.1:n.1874A>C
XM_017013460.1:c.856A>C	XP_016868949.1:p.Lys286Gln
XM_017013462.2:c.856A>C	XP_016868951.1:p.Lys286Gln
XM_024447163.1:c.1489A>C	XP_024302931.1:p.Lys497Gln
XM_024447164.1:c.1489A>C	XP_024302932.1:p.Lys497Gln
XM_024447165.1:c.856A>C	XP_024302933.1:p.Lys286Gln
NM_002485.5:c.1735A>C MANE Select	NP_002476.2:p.Lys579Gln
NM_001024688.3:c.1489A>C	NP_001019859.1:p.Lys497Gln