Canonical Allele Identifier: CA4802584

Gene: NBN

Linked Data

• ClinVar Variation Id: 230832
• ClinVar RCV Id: RCV000216943 ; RCV000541325 ; RCV001527001
• dbSNP Id: rs767523514
• ExAC: 8:90949262 A / T
• gnomAD v2: 8-90949262-A-T
• gnomAD v3: 8-89937034-A-T
• gnomAD v4: 8-89937034-A-T
• MyVariant Identifiers: chr8:g.90949262A>T (hg19) ; chr8:g.89937034A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937034A>T , CM000670.2:g.89937034A>T	GRCh38
NC_000008.10:g.90949262A>T , CM000670.1:g.90949262A>T	GRCh37
NC_000008.9:g.91018438A>T	NCBI36
NG_008860.1:g.52638T>A , LRG_158:g.52638T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3646T>A
ENST00000494804.2:n.3528T>A
ENST00000517337.2:c.1980T>A	ENSP00000429971.2:p.Asp660Glu
ENST00000523444.2:c.1980T>A	ENSP00000428252.2:p.Asp660Glu
ENST00000697292.1:c.2226T>A	ENSP00000513229.1:p.Asp742Glu
ENST00000697293.1:c.2277T>A	ENSP00000513230.1:p.Asp759Glu
ENST00000697294.1:c.*1837T>A	ENSP00000513231.1:n.*1837T>A
ENST00000697295.1:c.*1535T>A	ENSP00000513232.1:n.*1535T>A
ENST00000697296.1:c.*1894T>A	ENSP00000513233.1:n.*1894T>A
ENST00000697297.1:n.4011T>A
ENST00000697298.1:c.1980T>A	ENSP00000513234.1:p.Asp660Glu
ENST00000697299.1:c.1980T>A	ENSP00000513235.1:p.Asp660Glu
ENST00000697300.1:c.*1830T>A	ENSP00000513236.1:n.*1830T>A
ENST00000697301.1:c.*1747T>A	ENSP00000513237.1:n.*1747T>A
ENST00000697302.1:c.*1747T>A	ENSP00000513238.1:n.*1747T>A
ENST00000697303.1:c.*1830T>A	ENSP00000513239.1:n.*1830T>A
ENST00000697304.1:c.1914T>A	ENSP00000513240.1:p.Asp638Glu
ENST00000697305.1:n.2493T>A
ENST00000697306.1:c.*2777T>A	ENSP00000513241.1:n.*2777T>A
ENST00000697307.1:c.2001T>A	ENSP00000513242.1:p.Asp667Glu
ENST00000697308.1:c.2157T>A	ENSP00000513243.1:p.Asp719Glu
ENST00000697309.1:c.2185-1422T>A	ENSP00000513244.1:n.2185-1422T>A
ENST00000697310.1:c.2226T>A	ENSP00000513245.1:p.Asp742Glu
ENST00000697311.1:c.*491T>A	ENSP00000513246.1:n.*491T>A
ENST00000697312.1:c.*1679T>A	ENSP00000513247.1:n.*1679T>A
ENST00000697313.1:n.2688-1422T>A
ENST00000697314.1:n.3637-1422T>A
ENST00000697315.1:c.*130T>A	ENSP00000513248.1:n.*130T>A
ENST00000697316.1:n.2347T>A
ENST00000265433.8:c.2226T>A MANE Select	ENSP00000265433.4:p.Asp742Glu
ENST00000265433.7:c.2226T>A	ENSP00000265433.3:p.Asp742Glu
ENST00000396252.6:c.*2099T>A	ENSP00000379551.2:n.*2099T>A
ENST00000409330.5:c.1980T>A	ENSP00000386924.1:p.Asp660Glu
ENST00000474821.1:n.314T>A
ENST00000613033.1:c.336T>A	ENSP00000484487.1:p.Asp112Glu
NM_001024688.2:c.1980T>A	NP_001019859.1:p.Asp660Glu
NM_002485.4:c.2226T>A , LRG_158t1:c.2226T>A	NP_002476.2:p.Asp742Glu
XM_011517044.1:c.2202T>A	XP_011515346.1:p.Asp734Glu
XM_011517045.1:c.1980T>A	XP_011515347.1:p.Asp660Glu
XM_017013460.1:c.1347T>A	XP_016868949.1:p.Asp449Glu
XM_017013462.2:c.1347T>A	XP_016868951.1:p.Asp449Glu
XM_024447163.1:c.1980T>A	XP_024302931.1:p.Asp660Glu
XM_024447164.1:c.1980T>A	XP_024302932.1:p.Asp660Glu
XM_024447165.1:c.1347T>A	XP_024302933.1:p.Asp449Glu
NM_002485.5:c.2226T>A MANE Select	NP_002476.2:p.Asp742Glu
NM_001024688.3:c.1980T>A	NP_001019859.1:p.Asp660Glu