Canonical Allele Identifier: CA371655043

Gene: NBN

Linked Data

• ClinVar Variation Id: 1171527
• ClinVar RCV Id: RCV001524723
• dbSNP Id: rs192236678
• MyVariant Identifiers: chr8:g.90965508G>C (hg19) ; chr8:g.89953280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953280G>C , CM000670.2:g.89953280G>C	GRCh38
NC_000008.10:g.90965508G>C , CM000670.1:g.90965508G>C	GRCh37
NC_000008.9:g.91034684G>C	NCBI36
NG_008860.1:g.36392C>G , LRG_158:g.36392C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3111C>G
ENST00000517337.2:c.1563C>G	ENSP00000429971.2:p.Phe521Leu
ENST00000523444.2:c.1563C>G	ENSP00000428252.2:p.Phe521Leu
ENST00000697292.1:c.1809C>G	ENSP00000513229.1:p.Phe603Leu
ENST00000697293.1:c.1809C>G	ENSP00000513230.1:p.Phe603Leu
ENST00000697294.1:c.*1420C>G	ENSP00000513231.1:n.*1420C>G
ENST00000697295.1:c.*1118C>G	ENSP00000513232.1:n.*1118C>G
ENST00000697296.1:c.*1477C>G	ENSP00000513233.1:n.*1477C>G
ENST00000697297.1:n.3594C>G
ENST00000697298.1:c.1563C>G	ENSP00000513234.1:p.Phe521Leu
ENST00000697299.1:c.1563C>G	ENSP00000513235.1:p.Phe521Leu
ENST00000697300.1:c.*1413C>G	ENSP00000513236.1:n.*1413C>G
ENST00000697301.1:c.*1330C>G	ENSP00000513237.1:n.*1330C>G
ENST00000697302.1:c.*1330C>G	ENSP00000513238.1:n.*1330C>G
ENST00000697303.1:c.*1413C>G	ENSP00000513239.1:n.*1413C>G
ENST00000697304.1:c.1497C>G	ENSP00000513240.1:p.Phe499Leu
ENST00000697306.1:c.*809C>G	ENSP00000513241.1:n.*809C>G
ENST00000697307.1:c.1809C>G	ENSP00000513242.1:p.Phe603Leu
ENST00000697308.1:c.1809C>G	ENSP00000513243.1:p.Phe603Leu
ENST00000697309.1:c.1809C>G	ENSP00000513244.1:p.Phe603Leu
ENST00000697310.1:c.1809C>G	ENSP00000513245.1:p.Phe603Leu
ENST00000697311.1:c.1809C>G	ENSP00000513246.1:p.Phe603Leu
ENST00000697312.1:c.*1207C>G	ENSP00000513247.1:n.*1207C>G
ENST00000697313.1:n.2687+17084C>G
ENST00000697314.1:n.3600C>G
ENST00000697315.1:c.1809C>G	ENSP00000513248.1:p.Phe603Leu
ENST00000697316.1:n.1930C>G
ENST00000697317.1:n.1919C>G
ENST00000697318.1:n.1921C>G
ENST00000265433.8:c.1809C>G MANE Select	ENSP00000265433.4:p.Phe603Leu
ENST00000265433.7:c.1809C>G	ENSP00000265433.3:p.Phe603Leu
ENST00000396252.6:c.*1682C>G	ENSP00000379551.2:n.*1682C>G
ENST00000409330.5:c.1563C>G	ENSP00000386924.1:p.Phe521Leu
ENST00000613033.1:c.75C>G	ENSP00000484487.1:p.Phe25Leu
NM_001024688.2:c.1563C>G	NP_001019859.1:p.Phe521Leu
NM_002485.4:c.1809C>G , LRG_158t1:c.1809C>G	NP_002476.2:p.Phe603Leu
XM_011517044.1:c.1785C>G	XP_011515346.1:p.Phe595Leu
XM_011517045.1:c.1563C>G	XP_011515347.1:p.Phe521Leu
XR_928335.1:n.1948C>G
XM_017013460.1:c.930C>G	XP_016868949.1:p.Phe310Leu
XM_017013462.2:c.930C>G	XP_016868951.1:p.Phe310Leu
XM_024447163.1:c.1563C>G	XP_024302931.1:p.Phe521Leu
XM_024447164.1:c.1563C>G	XP_024302932.1:p.Phe521Leu
XM_024447165.1:c.930C>G	XP_024302933.1:p.Phe310Leu
NM_002485.5:c.1809C>G MANE Select	NP_002476.2:p.Phe603Leu
NM_001024688.3:c.1563C>G	NP_001019859.1:p.Phe521Leu