Canonical Allele Identifier: CA371663183

Gene: NBN

Linked Data

• ClinVar Variation Id: 2175421
• ClinVar RCV Id: RCV002579210
• gnomAD v4: 8-89982781-C-A
• MyVariant Identifiers: chr8:g.90995009C>A (hg19) ; chr8:g.89982781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89982781C>A , CM000670.2:g.89982781C>A	GRCh38
NC_000008.10:g.90995009C>A , CM000670.1:g.90995009C>A	GRCh37
NC_000008.9:g.91064185C>A	NCBI36
NG_008860.1:g.6891G>T , LRG_158:g.6891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.216G>T
ENST00000517337.2:c.-185G>T	ENSP00000429971.2:n.-185G>T
ENST00000523444.2:c.-185G>T	ENSP00000428252.2:n.-185G>T
ENST00000697292.1:c.112G>T	ENSP00000513229.1:p.Asp38Tyr
ENST00000697293.1:c.112G>T	ENSP00000513230.1:p.Asp38Tyr
ENST00000697294.1:c.112G>T	ENSP00000513231.1:p.Asp38Tyr
ENST00000697295.1:c.37+1744G>T	ENSP00000513232.1:n.37+1744G>T
ENST00000697296.1:c.112G>T	ENSP00000513233.1:p.Asp38Tyr
ENST00000697297.1:n.218G>T
ENST00000697298.1:c.-185G>T	ENSP00000513234.1:n.-185G>T
ENST00000697299.1:c.-75-1258G>T	ENSP00000513235.1:n.-75-1258G>T
ENST00000697300.1:c.-185G>T	ENSP00000513236.1:n.-185G>T
ENST00000697301.1:c.-185G>T	ENSP00000513237.1:n.-185G>T
ENST00000697302.1:c.112G>T	ENSP00000513238.1:p.Asp38Tyr
ENST00000697303.1:c.112G>T	ENSP00000513239.1:p.Asp38Tyr
ENST00000697304.1:c.112G>T	ENSP00000513240.1:p.Asp38Tyr
ENST00000697306.1:c.112G>T	ENSP00000513241.1:p.Asp38Tyr
ENST00000697307.1:c.112G>T	ENSP00000513242.1:p.Asp38Tyr
ENST00000697308.1:c.112G>T	ENSP00000513243.1:p.Asp38Tyr
ENST00000697309.1:c.112G>T	ENSP00000513244.1:p.Asp38Tyr
ENST00000697310.1:c.112G>T	ENSP00000513245.1:p.Asp38Tyr
ENST00000697311.1:c.112G>T	ENSP00000513246.1:p.Asp38Tyr
ENST00000697312.1:c.112G>T	ENSP00000513247.1:p.Asp38Tyr
ENST00000697313.1:n.224G>T
ENST00000697314.1:n.224G>T
ENST00000697315.1:c.112G>T	ENSP00000513248.1:p.Asp38Tyr
ENST00000697316.1:n.233G>T
ENST00000697317.1:n.222G>T
ENST00000697318.1:n.224G>T
ENST00000265433.8:c.112G>T MANE Select	ENSP00000265433.4:p.Asp38Tyr
ENST00000265433.7:c.112G>T	ENSP00000265433.3:p.Asp38Tyr
ENST00000396252.6:c.112G>T	ENSP00000379551.2:p.Asp38Tyr
ENST00000409330.5:c.-135G>T	ENSP00000386924.1:n.-135G>T
ENST00000494804.1:n.216G>T
ENST00000517337.1:c.-185G>T	ENSP00000429971.1:n.-185G>T
ENST00000519426.5:c.112G>T	ENSP00000430983.1:p.Asp38Tyr
ENST00000523444.1:c.112G>T	ENSP00000428252.1:p.Asp38Tyr
NM_001024688.2:c.-185G>T	NP_001019859.1:n.-185G>T
NM_002485.4:c.112G>T , LRG_158t1:c.112G>T	NP_002476.2:p.Asp38Tyr
XM_011517044.1:c.88G>T	XP_011515346.1:p.Asp30Tyr
XM_011517045.1:c.-185G>T	XP_011515347.1:n.-185G>T
XM_011517046.1:c.112G>T	XP_011515348.1:p.Asp38Tyr
XR_928335.1:n.249G>T
XM_017013460.1:c.-908G>T	XP_016868949.1:n.-908G>T
XM_017013462.2:c.-714G>T	XP_016868951.1:n.-714G>T
XM_024447163.1:c.-135G>T	XP_024302931.1:n.-135G>T
XM_024447165.1:c.-858G>T	XP_024302933.1:n.-858G>T
NM_002485.5:c.112G>T MANE Select	NP_002476.2:p.Asp38Tyr
NM_001024688.3:c.-185G>T	NP_001019859.1:n.-185G>T