Canonical Allele Identifier: CA371674748

Gene: NBN

Linked Data

• ClinVar Variation Id: 2009185
• ClinVar RCV Id: RCV002838161
• MyVariant Identifiers: chr8:g.90949260A>C (hg19) ; chr8:g.89937032A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937032A>C , CM000670.2:g.89937032A>C	GRCh38
NC_000008.10:g.90949260A>C , CM000670.1:g.90949260A>C	GRCh37
NC_000008.9:g.91018436A>C	NCBI36
NG_008860.1:g.52640T>G , LRG_158:g.52640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3648T>G
ENST00000494804.2:n.3530T>G
ENST00000517337.2:c.1982T>G	ENSP00000429971.2:p.Leu661Arg
ENST00000523444.2:c.1982T>G	ENSP00000428252.2:p.Leu661Arg
ENST00000697292.1:c.2228T>G	ENSP00000513229.1:p.Leu743Arg
ENST00000697293.1:c.2279T>G	ENSP00000513230.1:p.Leu760Arg
ENST00000697294.1:c.*1839T>G	ENSP00000513231.1:n.*1839T>G
ENST00000697295.1:c.*1537T>G	ENSP00000513232.1:n.*1537T>G
ENST00000697296.1:c.*1896T>G	ENSP00000513233.1:n.*1896T>G
ENST00000697297.1:n.4013T>G
ENST00000697298.1:c.1982T>G	ENSP00000513234.1:p.Leu661Arg
ENST00000697299.1:c.1982T>G	ENSP00000513235.1:p.Leu661Arg
ENST00000697300.1:c.*1832T>G	ENSP00000513236.1:n.*1832T>G
ENST00000697301.1:c.*1749T>G	ENSP00000513237.1:n.*1749T>G
ENST00000697302.1:c.*1749T>G	ENSP00000513238.1:n.*1749T>G
ENST00000697303.1:c.*1832T>G	ENSP00000513239.1:n.*1832T>G
ENST00000697304.1:c.1916T>G	ENSP00000513240.1:p.Leu639Arg
ENST00000697305.1:n.2495T>G
ENST00000697306.1:c.*2779T>G	ENSP00000513241.1:n.*2779T>G
ENST00000697307.1:c.2003T>G	ENSP00000513242.1:p.Leu668Arg
ENST00000697308.1:c.2159T>G	ENSP00000513243.1:p.Leu720Arg
ENST00000697309.1:c.2185-1420T>G	ENSP00000513244.1:n.2185-1420T>G
ENST00000697310.1:c.2228T>G	ENSP00000513245.1:p.Leu743Arg
ENST00000697311.1:c.*493T>G	ENSP00000513246.1:n.*493T>G
ENST00000697312.1:c.*1681T>G	ENSP00000513247.1:n.*1681T>G
ENST00000697313.1:n.2688-1420T>G
ENST00000697314.1:n.3637-1420T>G
ENST00000697315.1:c.*132T>G	ENSP00000513248.1:n.*132T>G
ENST00000697316.1:n.2349T>G
ENST00000265433.8:c.2228T>G MANE Select	ENSP00000265433.4:p.Leu743Arg
ENST00000265433.7:c.2228T>G	ENSP00000265433.3:p.Leu743Arg
ENST00000396252.6:c.*2101T>G	ENSP00000379551.2:n.*2101T>G
ENST00000409330.5:c.1982T>G	ENSP00000386924.1:p.Leu661Arg
ENST00000474821.1:n.316T>G
ENST00000613033.1:c.338T>G	ENSP00000484487.1:p.Leu113Arg
NM_001024688.2:c.1982T>G	NP_001019859.1:p.Leu661Arg
NM_002485.4:c.2228T>G , LRG_158t1:c.2228T>G	NP_002476.2:p.Leu743Arg
XM_011517044.1:c.2204T>G	XP_011515346.1:p.Leu735Arg
XM_011517045.1:c.1982T>G	XP_011515347.1:p.Leu661Arg
XM_017013460.1:c.1349T>G	XP_016868949.1:p.Leu450Arg
XM_017013462.2:c.1349T>G	XP_016868951.1:p.Leu450Arg
XM_024447163.1:c.1982T>G	XP_024302931.1:p.Leu661Arg
XM_024447164.1:c.1982T>G	XP_024302932.1:p.Leu661Arg
XM_024447165.1:c.1349T>G	XP_024302933.1:p.Leu450Arg
NM_002485.5:c.2228T>G MANE Select	NP_002476.2:p.Leu743Arg
NM_001024688.3:c.1982T>G	NP_001019859.1:p.Leu661Arg