Canonical Allele Identifier: CA371655201

Gene: NBN

Linked Data

• ClinVar Variation Id: 1463348
• ClinVar RCV Id: RCV001997683 ; RCV002398019
• dbSNP Id: rs2129697638
• gnomAD v4: 8-89953350-A-C
• MyVariant Identifiers: chr8:g.90965578A>C (hg19) ; chr8:g.89953350A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953350A>C , CM000670.2:g.89953350A>C	GRCh38
NC_000008.10:g.90965578A>C , CM000670.1:g.90965578A>C	GRCh37
NC_000008.9:g.91034754A>C	NCBI36
NG_008860.1:g.36322T>G , LRG_158:g.36322T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3041T>G
ENST00000517337.2:c.1493T>G	ENSP00000429971.2:p.Val498Gly
ENST00000523444.2:c.1493T>G	ENSP00000428252.2:p.Val498Gly
ENST00000697292.1:c.1739T>G	ENSP00000513229.1:p.Val580Gly
ENST00000697293.1:c.1739T>G	ENSP00000513230.1:p.Val580Gly
ENST00000697294.1:c.*1350T>G	ENSP00000513231.1:n.*1350T>G
ENST00000697295.1:c.*1048T>G	ENSP00000513232.1:n.*1048T>G
ENST00000697296.1:c.*1407T>G	ENSP00000513233.1:n.*1407T>G
ENST00000697297.1:n.3524T>G
ENST00000697298.1:c.1493T>G	ENSP00000513234.1:p.Val498Gly
ENST00000697299.1:c.1493T>G	ENSP00000513235.1:p.Val498Gly
ENST00000697300.1:c.*1343T>G	ENSP00000513236.1:n.*1343T>G
ENST00000697301.1:c.*1260T>G	ENSP00000513237.1:n.*1260T>G
ENST00000697302.1:c.*1260T>G	ENSP00000513238.1:n.*1260T>G
ENST00000697303.1:c.*1343T>G	ENSP00000513239.1:n.*1343T>G
ENST00000697304.1:c.1427T>G	ENSP00000513240.1:p.Val476Gly
ENST00000697306.1:c.*739T>G	ENSP00000513241.1:n.*739T>G
ENST00000697307.1:c.1739T>G	ENSP00000513242.1:p.Val580Gly
ENST00000697308.1:c.1739T>G	ENSP00000513243.1:p.Val580Gly
ENST00000697309.1:c.1739T>G	ENSP00000513244.1:p.Val580Gly
ENST00000697310.1:c.1739T>G	ENSP00000513245.1:p.Val580Gly
ENST00000697311.1:c.1739T>G	ENSP00000513246.1:p.Val580Gly
ENST00000697312.1:c.*1137T>G	ENSP00000513247.1:n.*1137T>G
ENST00000697313.1:n.2687+17014T>G
ENST00000697314.1:n.3530T>G
ENST00000697315.1:c.1739T>G	ENSP00000513248.1:p.Val580Gly
ENST00000697316.1:n.1860T>G
ENST00000697317.1:n.1849T>G
ENST00000697318.1:n.1851T>G
ENST00000265433.8:c.1739T>G MANE Select	ENSP00000265433.4:p.Val580Gly
ENST00000265433.7:c.1739T>G	ENSP00000265433.3:p.Val580Gly
ENST00000396252.6:c.*1612T>G	ENSP00000379551.2:n.*1612T>G
ENST00000409330.5:c.1493T>G	ENSP00000386924.1:p.Val498Gly
ENST00000613033.1:c.5T>G	ENSP00000484487.1:p.Val2Gly
NM_001024688.2:c.1493T>G	NP_001019859.1:p.Val498Gly
NM_002485.4:c.1739T>G , LRG_158t1:c.1739T>G	NP_002476.2:p.Val580Gly
XM_011517044.1:c.1715T>G	XP_011515346.1:p.Val572Gly
XM_011517045.1:c.1493T>G	XP_011515347.1:p.Val498Gly
XR_928335.1:n.1878T>G
XM_017013460.1:c.860T>G	XP_016868949.1:p.Val287Gly
XM_017013462.2:c.860T>G	XP_016868951.1:p.Val287Gly
XM_024447163.1:c.1493T>G	XP_024302931.1:p.Val498Gly
XM_024447164.1:c.1493T>G	XP_024302932.1:p.Val498Gly
XM_024447165.1:c.860T>G	XP_024302933.1:p.Val287Gly
NM_002485.5:c.1739T>G MANE Select	NP_002476.2:p.Val580Gly
NM_001024688.3:c.1493T>G	NP_001019859.1:p.Val498Gly