Canonical Allele Identifier: CA371676458

Gene: NBN

Linked Data

• ClinVar Variation Id: 3222420
• ClinVar RCV Id: RCV004513834
• MyVariant Identifiers: chr8:g.90958433A>C (hg19) ; chr8:g.89946205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946205A>C , CM000670.2:g.89946205A>C	GRCh38
NC_000008.10:g.90958433A>C , CM000670.1:g.90958433A>C	GRCh37
NC_000008.9:g.91027609A>C	NCBI36
NG_008860.1:g.43467T>G , LRG_158:g.43467T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3307T>G
ENST00000517337.2:c.1759T>G	ENSP00000429971.2:p.Ser587Ala
ENST00000523444.2:c.1759T>G	ENSP00000428252.2:p.Ser587Ala
ENST00000697292.1:c.2005T>G	ENSP00000513229.1:p.Ser669Ala
ENST00000697293.1:c.2005T>G	ENSP00000513230.1:p.Ser669Ala
ENST00000697294.1:c.*1616T>G	ENSP00000513231.1:n.*1616T>G
ENST00000697295.1:c.*1314T>G	ENSP00000513232.1:n.*1314T>G
ENST00000697296.1:c.*1673T>G	ENSP00000513233.1:n.*1673T>G
ENST00000697297.1:n.3790T>G
ENST00000697298.1:c.1759T>G	ENSP00000513234.1:p.Ser587Ala
ENST00000697299.1:c.1759T>G	ENSP00000513235.1:p.Ser587Ala
ENST00000697300.1:c.*1609T>G	ENSP00000513236.1:n.*1609T>G
ENST00000697301.1:c.*1526T>G	ENSP00000513237.1:n.*1526T>G
ENST00000697302.1:c.*1526T>G	ENSP00000513238.1:n.*1526T>G
ENST00000697303.1:c.*1609T>G	ENSP00000513239.1:n.*1609T>G
ENST00000697304.1:c.1693T>G	ENSP00000513240.1:p.Ser565Ala
ENST00000697306.1:c.*2556T>G	ENSP00000513241.1:n.*2556T>G
ENST00000697307.1:c.1846-2839T>G	ENSP00000513242.1:n.1846-2839T>G
ENST00000697308.1:c.1936T>G	ENSP00000513243.1:p.Ser646Ala
ENST00000697309.1:c.2005T>G	ENSP00000513244.1:p.Ser669Ala
ENST00000697310.1:c.2005T>G	ENSP00000513245.1:p.Ser669Ala
ENST00000697311.1:c.2005T>G	ENSP00000513246.1:p.Ser669Ala
ENST00000697312.1:c.*1403T>G	ENSP00000513247.1:n.*1403T>G
ENST00000697313.1:n.2688-10593T>G
ENST00000697314.1:n.3636+7039T>G
ENST00000697315.1:c.2005T>G	ENSP00000513248.1:p.Ser669Ala
ENST00000697316.1:n.2126T>G
ENST00000697317.1:n.2096T>G
ENST00000265433.8:c.2005T>G MANE Select	ENSP00000265433.4:p.Ser669Ala
ENST00000265433.7:c.2005T>G	ENSP00000265433.3:p.Ser669Ala
ENST00000396252.6:c.*1878T>G	ENSP00000379551.2:n.*1878T>G
ENST00000409330.5:c.1759T>G	ENSP00000386924.1:p.Ser587Ala
ENST00000520325.1:n.421T>G
ENST00000613033.1:c.180+1619T>G	ENSP00000484487.1:n.180+1619T>G
NM_001024688.2:c.1759T>G	NP_001019859.1:p.Ser587Ala
NM_002485.4:c.2005T>G , LRG_158t1:c.2005T>G	NP_002476.2:p.Ser669Ala
XM_011517044.1:c.1981T>G	XP_011515346.1:p.Ser661Ala
XM_011517045.1:c.1759T>G	XP_011515347.1:p.Ser587Ala
XM_017013460.1:c.1126T>G	XP_016868949.1:p.Ser376Ala
XM_017013462.2:c.1126T>G	XP_016868951.1:p.Ser376Ala
XM_024447163.1:c.1759T>G	XP_024302931.1:p.Ser587Ala
XM_024447164.1:c.1759T>G	XP_024302932.1:p.Ser587Ala
XM_024447165.1:c.1126T>G	XP_024302933.1:p.Ser376Ala
NM_002485.5:c.2005T>G MANE Select	NP_002476.2:p.Ser669Ala
NM_001024688.3:c.1759T>G	NP_001019859.1:p.Ser587Ala