Canonical Allele Identifier: CA16605264

Gene: NBN

Linked Data

• ClinVar Variation Id: 389750
• ClinVar RCV Id: RCV000442115
• dbSNP Id: rs1057523526
• gnomAD v4: 8-89937073-T-C
• MyVariant Identifiers: chr8:g.90949301T>C (hg19) ; chr8:g.89937073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937073T>C , CM000670.2:g.89937073T>C	GRCh38
NC_000008.10:g.90949301T>C , CM000670.1:g.90949301T>C	GRCh37
NC_000008.9:g.91018477T>C	NCBI36
NG_008860.1:g.52599A>G , LRG_158:g.52599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3607A>G
ENST00000494804.2:n.3489A>G
ENST00000517337.2:c.1941A>G	ENSP00000429971.2:p.Val647=
ENST00000523444.2:c.1941A>G	ENSP00000428252.2:p.Val647=
ENST00000697292.1:c.2187A>G	ENSP00000513229.1:p.Val729=
ENST00000697293.1:c.2238A>G	ENSP00000513230.1:p.Val746=
ENST00000697294.1:c.*1798A>G	ENSP00000513231.1:n.*1798A>G
ENST00000697295.1:c.*1496A>G	ENSP00000513232.1:n.*1496A>G
ENST00000697296.1:c.*1855A>G	ENSP00000513233.1:n.*1855A>G
ENST00000697297.1:n.3972A>G
ENST00000697298.1:c.1941A>G	ENSP00000513234.1:p.Val647=
ENST00000697299.1:c.1941A>G	ENSP00000513235.1:p.Val647=
ENST00000697300.1:c.*1791A>G	ENSP00000513236.1:n.*1791A>G
ENST00000697301.1:c.*1708A>G	ENSP00000513237.1:n.*1708A>G
ENST00000697302.1:c.*1708A>G	ENSP00000513238.1:n.*1708A>G
ENST00000697303.1:c.*1791A>G	ENSP00000513239.1:n.*1791A>G
ENST00000697304.1:c.1875A>G	ENSP00000513240.1:p.Val625=
ENST00000697305.1:n.2454A>G
ENST00000697306.1:c.*2738A>G	ENSP00000513241.1:n.*2738A>G
ENST00000697307.1:c.1962A>G	ENSP00000513242.1:p.Val654=
ENST00000697308.1:c.2118A>G	ENSP00000513243.1:p.Val706=
ENST00000697309.1:c.2185-1461A>G	ENSP00000513244.1:n.2185-1461A>G
ENST00000697310.1:c.2187A>G	ENSP00000513245.1:p.Val729=
ENST00000697311.1:c.*452A>G	ENSP00000513246.1:n.*452A>G
ENST00000697312.1:c.*1640A>G	ENSP00000513247.1:n.*1640A>G
ENST00000697313.1:n.2688-1461A>G
ENST00000697314.1:n.3637-1461A>G
ENST00000697315.1:c.*91A>G	ENSP00000513248.1:n.*91A>G
ENST00000697316.1:n.2308A>G
ENST00000265433.8:c.2187A>G MANE Select	ENSP00000265433.4:p.Val729=
ENST00000265433.7:c.2187A>G	ENSP00000265433.3:p.Val729=
ENST00000396252.6:c.*2060A>G	ENSP00000379551.2:n.*2060A>G
ENST00000409330.5:c.1941A>G	ENSP00000386924.1:p.Val647=
ENST00000474821.1:n.275A>G
ENST00000613033.1:c.297A>G	ENSP00000484487.1:p.Val99=
NM_001024688.2:c.1941A>G	NP_001019859.1:p.Val647=
NM_002485.4:c.2187A>G , LRG_158t1:c.2187A>G	NP_002476.2:p.Val729=
XM_011517044.1:c.2163A>G	XP_011515346.1:p.Val721=
XM_011517045.1:c.1941A>G	XP_011515347.1:p.Val647=
XM_017013460.1:c.1308A>G	XP_016868949.1:p.Val436=
XM_017013462.2:c.1308A>G	XP_016868951.1:p.Val436=
XM_024447163.1:c.1941A>G	XP_024302931.1:p.Val647=
XM_024447164.1:c.1941A>G	XP_024302932.1:p.Val647=
XM_024447165.1:c.1308A>G	XP_024302933.1:p.Val436=
NM_002485.5:c.2187A>G MANE Select	NP_002476.2:p.Val729=
NM_001024688.3:c.1941A>G	NP_001019859.1:p.Val647=