Canonical Allele Identifier: CA371676439

Gene: NBN

Linked Data

• ClinVar Variation Id: 3222421
• ClinVar RCV Id: RCV004513835
• dbSNP Id: rs2129647073
• MyVariant Identifiers: chr8:g.90958424G>C (hg19) ; chr8:g.89946196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946196G>C , CM000670.2:g.89946196G>C	GRCh38
NC_000008.10:g.90958424G>C , CM000670.1:g.90958424G>C	GRCh37
NC_000008.9:g.91027600G>C	NCBI36
NG_008860.1:g.43476C>G , LRG_158:g.43476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3316C>G
ENST00000517337.2:c.1768C>G	ENSP00000429971.2:p.Pro590Ala
ENST00000523444.2:c.1768C>G	ENSP00000428252.2:p.Pro590Ala
ENST00000697292.1:c.2014C>G	ENSP00000513229.1:p.Pro672Ala
ENST00000697293.1:c.2014C>G	ENSP00000513230.1:p.Pro672Ala
ENST00000697294.1:c.*1625C>G	ENSP00000513231.1:n.*1625C>G
ENST00000697295.1:c.*1323C>G	ENSP00000513232.1:n.*1323C>G
ENST00000697296.1:c.*1682C>G	ENSP00000513233.1:n.*1682C>G
ENST00000697297.1:n.3799C>G
ENST00000697298.1:c.1768C>G	ENSP00000513234.1:p.Pro590Ala
ENST00000697299.1:c.1768C>G	ENSP00000513235.1:p.Pro590Ala
ENST00000697300.1:c.*1618C>G	ENSP00000513236.1:n.*1618C>G
ENST00000697301.1:c.*1535C>G	ENSP00000513237.1:n.*1535C>G
ENST00000697302.1:c.*1535C>G	ENSP00000513238.1:n.*1535C>G
ENST00000697303.1:c.*1618C>G	ENSP00000513239.1:n.*1618C>G
ENST00000697304.1:c.1702C>G	ENSP00000513240.1:p.Pro568Ala
ENST00000697306.1:c.*2565C>G	ENSP00000513241.1:n.*2565C>G
ENST00000697307.1:c.1846-2830C>G	ENSP00000513242.1:n.1846-2830C>G
ENST00000697308.1:c.1945C>G	ENSP00000513243.1:p.Pro649Ala
ENST00000697309.1:c.2014C>G	ENSP00000513244.1:p.Pro672Ala
ENST00000697310.1:c.2014C>G	ENSP00000513245.1:p.Pro672Ala
ENST00000697311.1:c.2014C>G	ENSP00000513246.1:p.Pro672Ala
ENST00000697312.1:c.*1412C>G	ENSP00000513247.1:n.*1412C>G
ENST00000697313.1:n.2688-10584C>G
ENST00000697314.1:n.3636+7048C>G
ENST00000697315.1:c.2014C>G	ENSP00000513248.1:p.Pro672Ala
ENST00000697316.1:n.2135C>G
ENST00000697317.1:n.2105C>G
ENST00000265433.8:c.2014C>G MANE Select	ENSP00000265433.4:p.Pro672Ala
ENST00000265433.7:c.2014C>G	ENSP00000265433.3:p.Pro672Ala
ENST00000396252.6:c.*1887C>G	ENSP00000379551.2:n.*1887C>G
ENST00000409330.5:c.1768C>G	ENSP00000386924.1:p.Pro590Ala
ENST00000520325.1:n.430C>G
ENST00000613033.1:c.180+1628C>G	ENSP00000484487.1:n.180+1628C>G
NM_001024688.2:c.1768C>G	NP_001019859.1:p.Pro590Ala
NM_002485.4:c.2014C>G , LRG_158t1:c.2014C>G	NP_002476.2:p.Pro672Ala
XM_011517044.1:c.1990C>G	XP_011515346.1:p.Pro664Ala
XM_011517045.1:c.1768C>G	XP_011515347.1:p.Pro590Ala
XM_017013460.1:c.1135C>G	XP_016868949.1:p.Pro379Ala
XM_017013462.2:c.1135C>G	XP_016868951.1:p.Pro379Ala
XM_024447163.1:c.1768C>G	XP_024302931.1:p.Pro590Ala
XM_024447164.1:c.1768C>G	XP_024302932.1:p.Pro590Ala
XM_024447165.1:c.1135C>G	XP_024302933.1:p.Pro379Ala
NM_002485.5:c.2014C>G MANE Select	NP_002476.2:p.Pro672Ala
NM_001024688.3:c.1768C>G	NP_001019859.1:p.Pro590Ala