Canonical Allele Identifier: CA371655738

Gene: NBN

Linked Data

• ClinVar Variation Id: 852729
• ClinVar RCV Id: RCV001057404 ; RCV003467785 ; RCV004031809
• dbSNP Id: rs772411713
• gnomAD v4: 8-89953593-G-C
• MyVariant Identifiers: chr8:g.90965821G>C (hg19) ; chr8:g.89953593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953593G>C , CM000670.2:g.89953593G>C	GRCh38
NC_000008.10:g.90965821G>C , CM000670.1:g.90965821G>C	GRCh37
NC_000008.9:g.91034997G>C	NCBI36
NG_008860.1:g.36079C>G , LRG_158:g.36079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2798C>G
ENST00000517337.2:c.1250C>G	ENSP00000429971.2:p.Ser417Ter
ENST00000523444.2:c.1250C>G	ENSP00000428252.2:p.Ser417Ter
ENST00000697292.1:c.1496C>G	ENSP00000513229.1:p.Ser499Ter
ENST00000697293.1:c.1496C>G	ENSP00000513230.1:p.Ser499Ter
ENST00000697294.1:c.*1107C>G	ENSP00000513231.1:n.*1107C>G
ENST00000697295.1:c.*805C>G	ENSP00000513232.1:n.*805C>G
ENST00000697296.1:c.*1164C>G	ENSP00000513233.1:n.*1164C>G
ENST00000697297.1:n.3281C>G
ENST00000697298.1:c.1250C>G	ENSP00000513234.1:p.Ser417Ter
ENST00000697299.1:c.1250C>G	ENSP00000513235.1:p.Ser417Ter
ENST00000697300.1:c.*1100C>G	ENSP00000513236.1:n.*1100C>G
ENST00000697301.1:c.*1017C>G	ENSP00000513237.1:n.*1017C>G
ENST00000697302.1:c.*1017C>G	ENSP00000513238.1:n.*1017C>G
ENST00000697303.1:c.*1100C>G	ENSP00000513239.1:n.*1100C>G
ENST00000697304.1:c.1184C>G	ENSP00000513240.1:p.Ser395Ter
ENST00000697306.1:c.*496C>G	ENSP00000513241.1:n.*496C>G
ENST00000697307.1:c.1496C>G	ENSP00000513242.1:p.Ser499Ter
ENST00000697308.1:c.1496C>G	ENSP00000513243.1:p.Ser499Ter
ENST00000697309.1:c.1496C>G	ENSP00000513244.1:p.Ser499Ter
ENST00000697310.1:c.1496C>G	ENSP00000513245.1:p.Ser499Ter
ENST00000697311.1:c.1496C>G	ENSP00000513246.1:p.Ser499Ter
ENST00000697312.1:c.*894C>G	ENSP00000513247.1:n.*894C>G
ENST00000697313.1:n.2687+16771C>G
ENST00000697314.1:n.3287C>G
ENST00000697315.1:c.1496C>G	ENSP00000513248.1:p.Ser499Ter
ENST00000697316.1:n.1617C>G
ENST00000697317.1:n.1606C>G
ENST00000697318.1:n.1608C>G
ENST00000265433.8:c.1496C>G MANE Select	ENSP00000265433.4:p.Ser499Ter
ENST00000265433.7:c.1496C>G	ENSP00000265433.3:p.Ser499Ter
ENST00000396252.6:c.*1369C>G	ENSP00000379551.2:n.*1369C>G
ENST00000409330.5:c.1250C>G	ENSP00000386924.1:p.Ser417Ter
NM_001024688.2:c.1250C>G	NP_001019859.1:p.Ser417Ter
NM_002485.4:c.1496C>G , LRG_158t1:c.1496C>G	NP_002476.2:p.Ser499Ter
XM_011517044.1:c.1472C>G	XP_011515346.1:p.Ser491Ter
XM_011517045.1:c.1250C>G	XP_011515347.1:p.Ser417Ter
XR_928335.1:n.1635C>G
XM_017013460.1:c.617C>G	XP_016868949.1:p.Ser206Ter
XM_017013462.2:c.617C>G	XP_016868951.1:p.Ser206Ter
XM_024447163.1:c.1250C>G	XP_024302931.1:p.Ser417Ter
XM_024447164.1:c.1250C>G	XP_024302932.1:p.Ser417Ter
XM_024447165.1:c.617C>G	XP_024302933.1:p.Ser206Ter
NM_002485.5:c.1496C>G MANE Select	NP_002476.2:p.Ser499Ter
NM_001024688.3:c.1250C>G	NP_001019859.1:p.Ser417Ter