Canonical Allele Identifier: CA371676328

Gene: NBN

Linked Data

• ClinVar Variation Id: 582583
• ClinVar RCV Id: RCV000706693
• dbSNP Id: rs1563512800
• MyVariant Identifiers: chr8:g.90958375A>C (hg19) ; chr8:g.89946147A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946147A>C , CM000670.2:g.89946147A>C	GRCh38
NC_000008.10:g.90958375A>C , CM000670.1:g.90958375A>C	GRCh37
NC_000008.9:g.91027551A>C	NCBI36
NG_008860.1:g.43525T>G , LRG_158:g.43525T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3365T>G
ENST00000517337.2:c.1817T>G	ENSP00000429971.2:p.Phe606Cys
ENST00000523444.2:c.1817T>G	ENSP00000428252.2:p.Phe606Cys
ENST00000697292.1:c.2063T>G	ENSP00000513229.1:p.Phe688Cys
ENST00000697293.1:c.2063T>G	ENSP00000513230.1:p.Phe688Cys
ENST00000697294.1:c.*1674T>G	ENSP00000513231.1:n.*1674T>G
ENST00000697295.1:c.*1372T>G	ENSP00000513232.1:n.*1372T>G
ENST00000697296.1:c.*1731T>G	ENSP00000513233.1:n.*1731T>G
ENST00000697297.1:n.3848T>G
ENST00000697298.1:c.1817T>G	ENSP00000513234.1:p.Phe606Cys
ENST00000697299.1:c.1817T>G	ENSP00000513235.1:p.Phe606Cys
ENST00000697300.1:c.*1667T>G	ENSP00000513236.1:n.*1667T>G
ENST00000697301.1:c.*1584T>G	ENSP00000513237.1:n.*1584T>G
ENST00000697302.1:c.*1584T>G	ENSP00000513238.1:n.*1584T>G
ENST00000697303.1:c.*1667T>G	ENSP00000513239.1:n.*1667T>G
ENST00000697304.1:c.1751T>G	ENSP00000513240.1:p.Phe584Cys
ENST00000697306.1:c.*2614T>G	ENSP00000513241.1:n.*2614T>G
ENST00000697307.1:c.1846-2781T>G	ENSP00000513242.1:n.1846-2781T>G
ENST00000697308.1:c.1994T>G	ENSP00000513243.1:p.Phe665Cys
ENST00000697309.1:c.2063T>G	ENSP00000513244.1:p.Phe688Cys
ENST00000697310.1:c.2063T>G	ENSP00000513245.1:p.Phe688Cys
ENST00000697311.1:c.2063T>G	ENSP00000513246.1:p.Phe688Cys
ENST00000697312.1:c.*1461T>G	ENSP00000513247.1:n.*1461T>G
ENST00000697313.1:n.2688-10535T>G
ENST00000697314.1:n.3636+7097T>G
ENST00000697315.1:c.2063T>G	ENSP00000513248.1:p.Phe688Cys
ENST00000697316.1:n.2184T>G
ENST00000697317.1:n.2154T>G
ENST00000265433.8:c.2063T>G MANE Select	ENSP00000265433.4:p.Phe688Cys
ENST00000265433.7:c.2063T>G	ENSP00000265433.3:p.Phe688Cys
ENST00000396252.6:c.*1936T>G	ENSP00000379551.2:n.*1936T>G
ENST00000409330.5:c.1817T>G	ENSP00000386924.1:p.Phe606Cys
ENST00000520325.1:n.479T>G
ENST00000613033.1:c.180+1677T>G	ENSP00000484487.1:n.180+1677T>G
NM_001024688.2:c.1817T>G	NP_001019859.1:p.Phe606Cys
NM_002485.4:c.2063T>G , LRG_158t1:c.2063T>G	NP_002476.2:p.Phe688Cys
XM_011517044.1:c.2039T>G	XP_011515346.1:p.Phe680Cys
XM_011517045.1:c.1817T>G	XP_011515347.1:p.Phe606Cys
XM_017013460.1:c.1184T>G	XP_016868949.1:p.Phe395Cys
XM_017013462.2:c.1184T>G	XP_016868951.1:p.Phe395Cys
XM_024447163.1:c.1817T>G	XP_024302931.1:p.Phe606Cys
XM_024447164.1:c.1817T>G	XP_024302932.1:p.Phe606Cys
XM_024447165.1:c.1184T>G	XP_024302933.1:p.Phe395Cys
NM_002485.5:c.2063T>G MANE Select	NP_002476.2:p.Phe688Cys
NM_001024688.3:c.1817T>G	NP_001019859.1:p.Phe606Cys