Canonical Allele Identifier: CA371677231

Gene: NBN

Linked Data

• ClinVar Variation Id: 1367856
• ClinVar RCV Id: RCV001947519 ; RCV002406960
• dbSNP Id: rs1810267412
• gnomAD v4: 8-89947849-G-T
• MyVariant Identifiers: chr8:g.90960077G>T (hg19) ; chr8:g.89947849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947849G>T , CM000670.2:g.89947849G>T	GRCh38
NC_000008.10:g.90960077G>T , CM000670.1:g.90960077G>T	GRCh37
NC_000008.9:g.91029253G>T	NCBI36
NG_008860.1:g.41823C>A , LRG_158:g.41823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3191C>A
ENST00000517337.2:c.1643C>A	ENSP00000429971.2:p.Ser548Ter
ENST00000523444.2:c.1643C>A	ENSP00000428252.2:p.Ser548Ter
ENST00000697292.1:c.1889C>A	ENSP00000513229.1:p.Ser630Ter
ENST00000697293.1:c.1889C>A	ENSP00000513230.1:p.Ser630Ter
ENST00000697294.1:c.*1500C>A	ENSP00000513231.1:n.*1500C>A
ENST00000697295.1:c.*1198C>A	ENSP00000513232.1:n.*1198C>A
ENST00000697296.1:c.*1557C>A	ENSP00000513233.1:n.*1557C>A
ENST00000697297.1:n.3674C>A
ENST00000697298.1:c.1643C>A	ENSP00000513234.1:p.Ser548Ter
ENST00000697299.1:c.1643C>A	ENSP00000513235.1:p.Ser548Ter
ENST00000697300.1:c.*1493C>A	ENSP00000513236.1:n.*1493C>A
ENST00000697301.1:c.*1410C>A	ENSP00000513237.1:n.*1410C>A
ENST00000697302.1:c.*1410C>A	ENSP00000513238.1:n.*1410C>A
ENST00000697303.1:c.*1493C>A	ENSP00000513239.1:n.*1493C>A
ENST00000697304.1:c.1577C>A	ENSP00000513240.1:p.Ser526Ter
ENST00000697306.1:c.*912C>A	ENSP00000513241.1:n.*912C>A
ENST00000697307.1:c.1846-4483C>A	ENSP00000513242.1:n.1846-4483C>A
ENST00000697308.1:c.1846-1554C>A	ENSP00000513243.1:n.1846-1554C>A
ENST00000697309.1:c.1889C>A	ENSP00000513244.1:p.Ser630Ter
ENST00000697310.1:c.1889C>A	ENSP00000513245.1:p.Ser630Ter
ENST00000697311.1:c.1889C>A	ENSP00000513246.1:p.Ser630Ter
ENST00000697312.1:c.*1287C>A	ENSP00000513247.1:n.*1287C>A
ENST00000697313.1:n.2688-12237C>A
ENST00000697314.1:n.3636+5395C>A
ENST00000697315.1:c.1889C>A	ENSP00000513248.1:p.Ser630Ter
ENST00000697316.1:n.2010C>A
ENST00000697317.1:n.1999C>A
ENST00000265433.8:c.1889C>A MANE Select	ENSP00000265433.4:p.Ser630Ter
ENST00000265433.7:c.1889C>A	ENSP00000265433.3:p.Ser630Ter
ENST00000396252.6:c.*1762C>A	ENSP00000379551.2:n.*1762C>A
ENST00000409330.5:c.1643C>A	ENSP00000386924.1:p.Ser548Ter
ENST00000613033.1:c.155C>A	ENSP00000484487.1:p.Ser52Ter
NM_001024688.2:c.1643C>A	NP_001019859.1:p.Ser548Ter
NM_002485.4:c.1889C>A , LRG_158t1:c.1889C>A	NP_002476.2:p.Ser630Ter
XM_011517044.1:c.1865C>A	XP_011515346.1:p.Ser622Ter
XM_011517045.1:c.1643C>A	XP_011515347.1:p.Ser548Ter
XR_928335.1:n.2028C>A
XM_017013460.1:c.1010C>A	XP_016868949.1:p.Ser337Ter
XM_017013462.2:c.1010C>A	XP_016868951.1:p.Ser337Ter
XM_024447163.1:c.1643C>A	XP_024302931.1:p.Ser548Ter
XM_024447164.1:c.1643C>A	XP_024302932.1:p.Ser548Ter
XM_024447165.1:c.1010C>A	XP_024302933.1:p.Ser337Ter
NM_002485.5:c.1889C>A MANE Select	NP_002476.2:p.Ser630Ter
NM_001024688.3:c.1643C>A	NP_001019859.1:p.Ser548Ter