Canonical Allele Identifier: CA371660334

Gene: NBN

Linked Data

• ClinVar Variation Id: 1746405
• ClinVar RCV Id: RCV002340986 ; RCV003102712
• MyVariant Identifiers: chr8:g.90990507T>G (hg19) ; chr8:g.89978279T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978279T>G , CM000670.2:g.89978279T>G	GRCh38
NC_000008.10:g.90990507T>G , CM000670.1:g.90990507T>G	GRCh37
NC_000008.9:g.91059683T>G	NCBI36
NG_008860.1:g.11393A>C , LRG_158:g.11393A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1827A>C
ENST00000517337.2:c.279A>C	ENSP00000429971.2:p.Glu93Asp
ENST00000523444.2:c.279A>C	ENSP00000428252.2:p.Glu93Asp
ENST00000697292.1:c.525A>C	ENSP00000513229.1:p.Glu175Asp
ENST00000697293.1:c.525A>C	ENSP00000513230.1:p.Glu175Asp
ENST00000697294.1:c.*136A>C	ENSP00000513231.1:n.*136A>C
ENST00000697295.1:c.37+6246A>C	ENSP00000513232.1:n.37+6246A>C
ENST00000697296.1:c.*193A>C	ENSP00000513233.1:n.*193A>C
ENST00000697297.1:n.2310A>C
ENST00000697298.1:c.279A>C	ENSP00000513234.1:p.Glu93Asp
ENST00000697299.1:c.279A>C	ENSP00000513235.1:p.Glu93Asp
ENST00000697300.1:c.*129A>C	ENSP00000513236.1:n.*129A>C
ENST00000697301.1:c.*46A>C	ENSP00000513237.1:n.*46A>C
ENST00000697302.1:c.*46A>C	ENSP00000513238.1:n.*46A>C
ENST00000697303.1:c.*129A>C	ENSP00000513239.1:n.*129A>C
ENST00000697304.1:c.525A>C	ENSP00000513240.1:p.Glu175Asp
ENST00000697306.1:c.480+2455A>C	ENSP00000513241.1:n.480+2455A>C
ENST00000697307.1:c.525A>C	ENSP00000513242.1:p.Glu175Asp
ENST00000697308.1:c.525A>C	ENSP00000513243.1:p.Glu175Asp
ENST00000697309.1:c.525A>C	ENSP00000513244.1:p.Glu175Asp
ENST00000697310.1:c.525A>C	ENSP00000513245.1:p.Glu175Asp
ENST00000697311.1:c.525A>C	ENSP00000513246.1:p.Glu175Asp
ENST00000697312.1:c.480+2455A>C	ENSP00000513247.1:n.480+2455A>C
ENST00000697313.1:n.2316A>C
ENST00000697314.1:n.2316A>C
ENST00000697315.1:c.525A>C	ENSP00000513248.1:p.Glu175Asp
ENST00000697316.1:n.646A>C
ENST00000697317.1:n.635A>C
ENST00000697318.1:n.637A>C
ENST00000265433.8:c.525A>C MANE Select	ENSP00000265433.4:p.Glu175Asp
ENST00000265433.7:c.525A>C	ENSP00000265433.3:p.Glu175Asp
ENST00000396252.6:c.*398A>C	ENSP00000379551.2:n.*398A>C
ENST00000409330.5:c.279A>C	ENSP00000386924.1:p.Glu93Asp
ENST00000517772.5:c.279A>C	ENSP00000428717.1:p.Glu93Asp
ENST00000519426.5:c.320+3096A>C	ENSP00000430983.1:n.320+3096A>C
ENST00000523444.1:c.*357A>C	ENSP00000428252.1:n.*357A>C
NM_001024688.2:c.279A>C	NP_001019859.1:p.Glu93Asp
NM_002485.4:c.525A>C , LRG_158t1:c.525A>C	NP_002476.2:p.Glu175Asp
XM_011517044.1:c.501A>C	XP_011515346.1:p.Glu167Asp
XM_011517045.1:c.279A>C	XP_011515347.1:p.Glu93Asp
XM_011517046.1:c.525A>C	XP_011515348.1:p.Glu175Asp
XR_928335.1:n.662A>C
XM_017013460.1:c.-355A>C	XP_016868949.1:n.-355A>C
XM_017013462.2:c.-296+2455A>C	XP_016868951.1:n.-296+2455A>C
XM_024447163.1:c.279A>C	XP_024302931.1:p.Glu93Asp
XM_024447164.1:c.279A>C	XP_024302932.1:p.Glu93Asp
XM_024447165.1:c.-355A>C	XP_024302933.1:n.-355A>C
NM_002485.5:c.525A>C MANE Select	NP_002476.2:p.Glu175Asp
NM_001024688.3:c.279A>C	NP_001019859.1:p.Glu93Asp