Canonical Allele Identifier: CA371674802

Gene: NBN

Linked Data

• ClinVar Variation Id: 3222428
• ClinVar RCV Id: RCV004513842
• MyVariant Identifiers: chr8:g.90949285T>C (hg19) ; chr8:g.89937057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937057T>C , CM000670.2:g.89937057T>C	GRCh38
NC_000008.10:g.90949285T>C , CM000670.1:g.90949285T>C	GRCh37
NC_000008.9:g.91018461T>C	NCBI36
NG_008860.1:g.52615A>G , LRG_158:g.52615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3623A>G
ENST00000494804.2:n.3505A>G
ENST00000517337.2:c.1957A>G	ENSP00000429971.2:p.Lys653Glu
ENST00000523444.2:c.1957A>G	ENSP00000428252.2:p.Lys653Glu
ENST00000697292.1:c.2203A>G	ENSP00000513229.1:p.Lys735Glu
ENST00000697293.1:c.2254A>G	ENSP00000513230.1:p.Lys752Glu
ENST00000697294.1:c.*1814A>G	ENSP00000513231.1:n.*1814A>G
ENST00000697295.1:c.*1512A>G	ENSP00000513232.1:n.*1512A>G
ENST00000697296.1:c.*1871A>G	ENSP00000513233.1:n.*1871A>G
ENST00000697297.1:n.3988A>G
ENST00000697298.1:c.1957A>G	ENSP00000513234.1:p.Lys653Glu
ENST00000697299.1:c.1957A>G	ENSP00000513235.1:p.Lys653Glu
ENST00000697300.1:c.*1807A>G	ENSP00000513236.1:n.*1807A>G
ENST00000697301.1:c.*1724A>G	ENSP00000513237.1:n.*1724A>G
ENST00000697302.1:c.*1724A>G	ENSP00000513238.1:n.*1724A>G
ENST00000697303.1:c.*1807A>G	ENSP00000513239.1:n.*1807A>G
ENST00000697304.1:c.1891A>G	ENSP00000513240.1:p.Lys631Glu
ENST00000697305.1:n.2470A>G
ENST00000697306.1:c.*2754A>G	ENSP00000513241.1:n.*2754A>G
ENST00000697307.1:c.1978A>G	ENSP00000513242.1:p.Lys660Glu
ENST00000697308.1:c.2134A>G	ENSP00000513243.1:p.Lys712Glu
ENST00000697309.1:c.2185-1445A>G	ENSP00000513244.1:n.2185-1445A>G
ENST00000697310.1:c.2203A>G	ENSP00000513245.1:p.Lys735Glu
ENST00000697311.1:c.*468A>G	ENSP00000513246.1:n.*468A>G
ENST00000697312.1:c.*1656A>G	ENSP00000513247.1:n.*1656A>G
ENST00000697313.1:n.2688-1445A>G
ENST00000697314.1:n.3637-1445A>G
ENST00000697315.1:c.*107A>G	ENSP00000513248.1:n.*107A>G
ENST00000697316.1:n.2324A>G
ENST00000265433.8:c.2203A>G MANE Select	ENSP00000265433.4:p.Lys735Glu
ENST00000265433.7:c.2203A>G	ENSP00000265433.3:p.Lys735Glu
ENST00000396252.6:c.*2076A>G	ENSP00000379551.2:n.*2076A>G
ENST00000409330.5:c.1957A>G	ENSP00000386924.1:p.Lys653Glu
ENST00000474821.1:n.291A>G
ENST00000613033.1:c.313A>G	ENSP00000484487.1:p.Lys105Glu
NM_001024688.2:c.1957A>G	NP_001019859.1:p.Lys653Glu
NM_002485.4:c.2203A>G , LRG_158t1:c.2203A>G	NP_002476.2:p.Lys735Glu
XM_011517044.1:c.2179A>G	XP_011515346.1:p.Lys727Glu
XM_011517045.1:c.1957A>G	XP_011515347.1:p.Lys653Glu
XM_017013460.1:c.1324A>G	XP_016868949.1:p.Lys442Glu
XM_017013462.2:c.1324A>G	XP_016868951.1:p.Lys442Glu
XM_024447163.1:c.1957A>G	XP_024302931.1:p.Lys653Glu
XM_024447164.1:c.1957A>G	XP_024302932.1:p.Lys653Glu
XM_024447165.1:c.1324A>G	XP_024302933.1:p.Lys442Glu
NM_002485.5:c.2203A>G MANE Select	NP_002476.2:p.Lys735Glu
NM_001024688.3:c.1957A>G	NP_001019859.1:p.Lys653Glu