Canonical Allele Identifier: CA371677264

Gene: NBN

Linked Data

• ClinVar Variation Id: 1714180
• ClinVar RCV Id: RCV002297163
• MyVariant Identifiers: chr8:g.90960092T>G (hg19) ; chr8:g.89947864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947864T>G , CM000670.2:g.89947864T>G	GRCh38
NC_000008.10:g.90960092T>G , CM000670.1:g.90960092T>G	GRCh37
NC_000008.9:g.91029268T>G	NCBI36
NG_008860.1:g.41808A>C , LRG_158:g.41808A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3176A>C
ENST00000517337.2:c.1628A>C	ENSP00000429971.2:p.Glu543Ala
ENST00000523444.2:c.1628A>C	ENSP00000428252.2:p.Glu543Ala
ENST00000697292.1:c.1874A>C	ENSP00000513229.1:p.Glu625Ala
ENST00000697293.1:c.1874A>C	ENSP00000513230.1:p.Glu625Ala
ENST00000697294.1:c.*1485A>C	ENSP00000513231.1:n.*1485A>C
ENST00000697295.1:c.*1183A>C	ENSP00000513232.1:n.*1183A>C
ENST00000697296.1:c.*1542A>C	ENSP00000513233.1:n.*1542A>C
ENST00000697297.1:n.3659A>C
ENST00000697298.1:c.1628A>C	ENSP00000513234.1:p.Glu543Ala
ENST00000697299.1:c.1628A>C	ENSP00000513235.1:p.Glu543Ala
ENST00000697300.1:c.*1478A>C	ENSP00000513236.1:n.*1478A>C
ENST00000697301.1:c.*1395A>C	ENSP00000513237.1:n.*1395A>C
ENST00000697302.1:c.*1395A>C	ENSP00000513238.1:n.*1395A>C
ENST00000697303.1:c.*1478A>C	ENSP00000513239.1:n.*1478A>C
ENST00000697304.1:c.1562A>C	ENSP00000513240.1:p.Glu521Ala
ENST00000697306.1:c.*897A>C	ENSP00000513241.1:n.*897A>C
ENST00000697307.1:c.1846-4498A>C	ENSP00000513242.1:n.1846-4498A>C
ENST00000697308.1:c.1846-1569A>C	ENSP00000513243.1:n.1846-1569A>C
ENST00000697309.1:c.1874A>C	ENSP00000513244.1:p.Glu625Ala
ENST00000697310.1:c.1874A>C	ENSP00000513245.1:p.Glu625Ala
ENST00000697311.1:c.1874A>C	ENSP00000513246.1:p.Glu625Ala
ENST00000697312.1:c.*1272A>C	ENSP00000513247.1:n.*1272A>C
ENST00000697313.1:n.2688-12252A>C
ENST00000697314.1:n.3636+5380A>C
ENST00000697315.1:c.1874A>C	ENSP00000513248.1:p.Glu625Ala
ENST00000697316.1:n.1995A>C
ENST00000697317.1:n.1984A>C
ENST00000265433.8:c.1874A>C MANE Select	ENSP00000265433.4:p.Glu625Ala
ENST00000265433.7:c.1874A>C	ENSP00000265433.3:p.Glu625Ala
ENST00000396252.6:c.*1747A>C	ENSP00000379551.2:n.*1747A>C
ENST00000409330.5:c.1628A>C	ENSP00000386924.1:p.Glu543Ala
ENST00000613033.1:c.140A>C	ENSP00000484487.1:p.Glu47Ala
NM_001024688.2:c.1628A>C	NP_001019859.1:p.Glu543Ala
NM_002485.4:c.1874A>C , LRG_158t1:c.1874A>C	NP_002476.2:p.Glu625Ala
XM_011517044.1:c.1850A>C	XP_011515346.1:p.Glu617Ala
XM_011517045.1:c.1628A>C	XP_011515347.1:p.Glu543Ala
XR_928335.1:n.2013A>C
XM_017013460.1:c.995A>C	XP_016868949.1:p.Glu332Ala
XM_017013462.2:c.995A>C	XP_016868951.1:p.Glu332Ala
XM_024447163.1:c.1628A>C	XP_024302931.1:p.Glu543Ala
XM_024447164.1:c.1628A>C	XP_024302932.1:p.Glu543Ala
XM_024447165.1:c.995A>C	XP_024302933.1:p.Glu332Ala
NM_002485.5:c.1874A>C MANE Select	NP_002476.2:p.Glu625Ala
NM_001024688.3:c.1628A>C	NP_001019859.1:p.Glu543Ala