Canonical Allele Identifier: CA287922

Gene: NBN

Linked Data

• ClinVar Variation Id: 127866
• ClinVar RCV Id: RCV000115789 ; RCV000775375 ; RCV001049269
• dbSNP Id: rs369649307
• ExAC: 8:90949297 T / A
• gnomAD v2: 8-90949297-T-A
• gnomAD v4: 8-89937069-T-A
• MyVariant Identifiers: chr8:g.90949297T>A (hg19) ; chr8:g.89937069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937069T>A , CM000670.2:g.89937069T>A	GRCh38
NC_000008.10:g.90949297T>A , CM000670.1:g.90949297T>A	GRCh37
NC_000008.9:g.91018473T>A	NCBI36
NG_008860.1:g.52603A>T , LRG_158:g.52603A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3611A>T
ENST00000494804.2:n.3493A>T
ENST00000517337.2:c.1945A>T	ENSP00000429971.2:p.Asn649Tyr
ENST00000523444.2:c.1945A>T	ENSP00000428252.2:p.Asn649Tyr
ENST00000697292.1:c.2191A>T	ENSP00000513229.1:p.Asn731Tyr
ENST00000697293.1:c.2242A>T	ENSP00000513230.1:p.Asn748Tyr
ENST00000697294.1:c.*1802A>T	ENSP00000513231.1:n.*1802A>T
ENST00000697295.1:c.*1500A>T	ENSP00000513232.1:n.*1500A>T
ENST00000697296.1:c.*1859A>T	ENSP00000513233.1:n.*1859A>T
ENST00000697297.1:n.3976A>T
ENST00000697298.1:c.1945A>T	ENSP00000513234.1:p.Asn649Tyr
ENST00000697299.1:c.1945A>T	ENSP00000513235.1:p.Asn649Tyr
ENST00000697300.1:c.*1795A>T	ENSP00000513236.1:n.*1795A>T
ENST00000697301.1:c.*1712A>T	ENSP00000513237.1:n.*1712A>T
ENST00000697302.1:c.*1712A>T	ENSP00000513238.1:n.*1712A>T
ENST00000697303.1:c.*1795A>T	ENSP00000513239.1:n.*1795A>T
ENST00000697304.1:c.1879A>T	ENSP00000513240.1:p.Asn627Tyr
ENST00000697305.1:n.2458A>T
ENST00000697306.1:c.*2742A>T	ENSP00000513241.1:n.*2742A>T
ENST00000697307.1:c.1966A>T	ENSP00000513242.1:p.Asn656Tyr
ENST00000697308.1:c.2122A>T	ENSP00000513243.1:p.Asn708Tyr
ENST00000697309.1:c.2185-1457A>T	ENSP00000513244.1:n.2185-1457A>T
ENST00000697310.1:c.2191A>T	ENSP00000513245.1:p.Asn731Tyr
ENST00000697311.1:c.*456A>T	ENSP00000513246.1:n.*456A>T
ENST00000697312.1:c.*1644A>T	ENSP00000513247.1:n.*1644A>T
ENST00000697313.1:n.2688-1457A>T
ENST00000697314.1:n.3637-1457A>T
ENST00000697315.1:c.*95A>T	ENSP00000513248.1:n.*95A>T
ENST00000697316.1:n.2312A>T
ENST00000265433.8:c.2191A>T MANE Select	ENSP00000265433.4:p.Asn731Tyr
ENST00000265433.7:c.2191A>T	ENSP00000265433.3:p.Asn731Tyr
ENST00000396252.6:c.*2064A>T	ENSP00000379551.2:n.*2064A>T
ENST00000409330.5:c.1945A>T	ENSP00000386924.1:p.Asn649Tyr
ENST00000474821.1:n.279A>T
ENST00000613033.1:c.301A>T	ENSP00000484487.1:p.Asn101Tyr
NM_001024688.2:c.1945A>T	NP_001019859.1:p.Asn649Tyr
NM_002485.4:c.2191A>T , LRG_158t1:c.2191A>T	NP_002476.2:p.Asn731Tyr
XM_011517044.1:c.2167A>T	XP_011515346.1:p.Asn723Tyr
XM_011517045.1:c.1945A>T	XP_011515347.1:p.Asn649Tyr
XM_017013460.1:c.1312A>T	XP_016868949.1:p.Asn438Tyr
XM_017013462.2:c.1312A>T	XP_016868951.1:p.Asn438Tyr
XM_024447163.1:c.1945A>T	XP_024302931.1:p.Asn649Tyr
XM_024447164.1:c.1945A>T	XP_024302932.1:p.Asn649Tyr
XM_024447165.1:c.1312A>T	XP_024302933.1:p.Asn438Tyr
NM_002485.5:c.2191A>T MANE Select	NP_002476.2:p.Asn731Tyr
NM_001024688.3:c.1945A>T	NP_001019859.1:p.Asn649Tyr