Canonical Allele Identifier: CA371675275

Gene: NBN

Linked Data

• ClinVar Variation Id: 480058
• ClinVar RCV Id: RCV000563873 ; RCV001858119
• dbSNP Id: rs1554555732
• gnomAD v4: 8-89943258-T-C
• MyVariant Identifiers: chr8:g.90955486T>C (hg19) ; chr8:g.89943258T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943258T>C , CM000670.2:g.89943258T>C	GRCh38
NC_000008.10:g.90955486T>C , CM000670.1:g.90955486T>C	GRCh37
NC_000008.9:g.91024662T>C	NCBI36
NG_008860.1:g.46414A>G , LRG_158:g.46414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3481A>G
ENST00000517337.2:c.1933A>G	ENSP00000429971.2:p.Met645Val
ENST00000523444.2:c.1933A>G	ENSP00000428252.2:p.Met645Val
ENST00000697292.1:c.2179A>G	ENSP00000513229.1:p.Met727Val
ENST00000697293.1:c.2179A>G	ENSP00000513230.1:p.Met727Val
ENST00000697294.1:c.*1790A>G	ENSP00000513231.1:n.*1790A>G
ENST00000697295.1:c.*1488A>G	ENSP00000513232.1:n.*1488A>G
ENST00000697296.1:c.*1847A>G	ENSP00000513233.1:n.*1847A>G
ENST00000697297.1:n.3964A>G
ENST00000697298.1:c.1933A>G	ENSP00000513234.1:p.Met645Val
ENST00000697299.1:c.1933A>G	ENSP00000513235.1:p.Met645Val
ENST00000697300.1:c.*1783A>G	ENSP00000513236.1:n.*1783A>G
ENST00000697301.1:c.*1700A>G	ENSP00000513237.1:n.*1700A>G
ENST00000697302.1:c.*1700A>G	ENSP00000513238.1:n.*1700A>G
ENST00000697303.1:c.*1783A>G	ENSP00000513239.1:n.*1783A>G
ENST00000697304.1:c.1867A>G	ENSP00000513240.1:p.Met623Val
ENST00000697305.1:n.2446A>G
ENST00000697306.1:c.*2730A>G	ENSP00000513241.1:n.*2730A>G
ENST00000697307.1:c.1954A>G	ENSP00000513242.1:p.Met652Val
ENST00000697308.1:c.2110A>G	ENSP00000513243.1:p.Met704Val
ENST00000697309.1:c.2179A>G	ENSP00000513244.1:p.Met727Val
ENST00000697310.1:c.2179A>G	ENSP00000513245.1:p.Met727Val
ENST00000697311.1:c.2179A>G	ENSP00000513246.1:p.Met727Val
ENST00000697312.1:c.*1577A>G	ENSP00000513247.1:n.*1577A>G
ENST00000697313.1:n.2688-7646A>G
ENST00000697314.1:n.3637-7646A>G
ENST00000697315.1:c.2179A>G	ENSP00000513248.1:p.Met727Val
ENST00000697316.1:n.2300A>G
ENST00000265433.8:c.2179A>G MANE Select	ENSP00000265433.4:p.Met727Val
ENST00000265433.7:c.2179A>G	ENSP00000265433.3:p.Met727Val
ENST00000396252.6:c.*2052A>G	ENSP00000379551.2:n.*2052A>G
ENST00000409330.5:c.1933A>G	ENSP00000386924.1:p.Met645Val
ENST00000613033.1:c.289A>G	ENSP00000484487.1:p.Met97Val
NM_001024688.2:c.1933A>G	NP_001019859.1:p.Met645Val
NM_002485.4:c.2179A>G , LRG_158t1:c.2179A>G	NP_002476.2:p.Met727Val
XM_011517044.1:c.2155A>G	XP_011515346.1:p.Met719Val
XM_011517045.1:c.1933A>G	XP_011515347.1:p.Met645Val
XM_017013460.1:c.1300A>G	XP_016868949.1:p.Met434Val
XM_017013462.2:c.1300A>G	XP_016868951.1:p.Met434Val
XM_024447163.1:c.1933A>G	XP_024302931.1:p.Met645Val
XM_024447164.1:c.1933A>G	XP_024302932.1:p.Met645Val
XM_024447165.1:c.1300A>G	XP_024302933.1:p.Met434Val
NM_002485.5:c.2179A>G MANE Select	NP_002476.2:p.Met727Val
NM_001024688.3:c.1933A>G	NP_001019859.1:p.Met645Val