Canonical Allele Identifier: CA192486

Gene: NBN

Linked Data

• ClinVar Variation Id: 185635
• ClinVar RCV Id: RCV000165086 ; RCV000473926 ; RCV001589032 ; RCV003317120 ; RCV003474864
• dbSNP Id: rs756036331
• ExAC: 8:90960053 G / T
• gnomAD v2: 8-90960053-G-T
• gnomAD v4: 8-89947825-G-T
• MyVariant Identifiers: chr8:g.90960053G>T (hg19) ; chr8:g.89947825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947825G>T , CM000670.2:g.89947825G>T	GRCh38
NC_000008.10:g.90960053G>T , CM000670.1:g.90960053G>T	GRCh37
NC_000008.9:g.91029229G>T	NCBI36
NG_008860.1:g.41847C>A , LRG_158:g.41847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3215C>A
ENST00000517337.2:c.1667C>A	ENSP00000429971.2:p.Ser556Tyr
ENST00000523444.2:c.1667C>A	ENSP00000428252.2:p.Ser556Tyr
ENST00000697292.1:c.1913C>A	ENSP00000513229.1:p.Ser638Tyr
ENST00000697293.1:c.1913C>A	ENSP00000513230.1:p.Ser638Tyr
ENST00000697294.1:c.*1524C>A	ENSP00000513231.1:n.*1524C>A
ENST00000697295.1:c.*1222C>A	ENSP00000513232.1:n.*1222C>A
ENST00000697296.1:c.*1581C>A	ENSP00000513233.1:n.*1581C>A
ENST00000697297.1:n.3698C>A
ENST00000697298.1:c.1667C>A	ENSP00000513234.1:p.Ser556Tyr
ENST00000697299.1:c.1667C>A	ENSP00000513235.1:p.Ser556Tyr
ENST00000697300.1:c.*1517C>A	ENSP00000513236.1:n.*1517C>A
ENST00000697301.1:c.*1434C>A	ENSP00000513237.1:n.*1434C>A
ENST00000697302.1:c.*1434C>A	ENSP00000513238.1:n.*1434C>A
ENST00000697303.1:c.*1517C>A	ENSP00000513239.1:n.*1517C>A
ENST00000697304.1:c.1601C>A	ENSP00000513240.1:p.Ser534Tyr
ENST00000697306.1:c.*936C>A	ENSP00000513241.1:n.*936C>A
ENST00000697307.1:c.1846-4459C>A	ENSP00000513242.1:n.1846-4459C>A
ENST00000697308.1:c.1846-1530C>A	ENSP00000513243.1:n.1846-1530C>A
ENST00000697309.1:c.1913C>A	ENSP00000513244.1:p.Ser638Tyr
ENST00000697310.1:c.1913C>A	ENSP00000513245.1:p.Ser638Tyr
ENST00000697311.1:c.1913C>A	ENSP00000513246.1:p.Ser638Tyr
ENST00000697312.1:c.*1311C>A	ENSP00000513247.1:n.*1311C>A
ENST00000697313.1:n.2688-12213C>A
ENST00000697314.1:n.3636+5419C>A
ENST00000697315.1:c.1913C>A	ENSP00000513248.1:p.Ser638Tyr
ENST00000697316.1:n.2034C>A
ENST00000697317.1:n.2005+18C>A
ENST00000265433.8:c.1913C>A MANE Select	ENSP00000265433.4:p.Ser638Tyr
ENST00000265433.7:c.1913C>A	ENSP00000265433.3:p.Ser638Tyr
ENST00000396252.6:c.*1786C>A	ENSP00000379551.2:n.*1786C>A
ENST00000409330.5:c.1667C>A	ENSP00000386924.1:p.Ser556Tyr
ENST00000613033.1:c.179C>A	ENSP00000484487.1:p.Ser60Tyr
NM_001024688.2:c.1667C>A	NP_001019859.1:p.Ser556Tyr
NM_002485.4:c.1913C>A , LRG_158t1:c.1913C>A	NP_002476.2:p.Ser638Tyr
XM_011517044.1:c.1889C>A	XP_011515346.1:p.Ser630Tyr
XM_011517045.1:c.1667C>A	XP_011515347.1:p.Ser556Tyr
XR_928335.1:n.2052C>A
XM_017013460.1:c.1034C>A	XP_016868949.1:p.Ser345Tyr
XM_017013462.2:c.1034C>A	XP_016868951.1:p.Ser345Tyr
XM_024447163.1:c.1667C>A	XP_024302931.1:p.Ser556Tyr
XM_024447164.1:c.1667C>A	XP_024302932.1:p.Ser556Tyr
XM_024447165.1:c.1034C>A	XP_024302933.1:p.Ser345Tyr
NM_002485.5:c.1913C>A MANE Select	NP_002476.2:p.Ser638Tyr
NM_001024688.3:c.1667C>A	NP_001019859.1:p.Ser556Tyr