Canonical Allele Identifier: CA371656207

Gene: NBN

Linked Data

• ClinVar Variation Id: 485920
• ClinVar RCV Id: RCV000569911 ; RCV001054209 ; RCV002491138
• dbSNP Id: rs1554559171
• MyVariant Identifiers: chr8:g.90967629G>T (hg19) ; chr8:g.89955401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955401G>T , CM000670.2:g.89955401G>T	GRCh38
NC_000008.10:g.90967629G>T , CM000670.1:g.90967629G>T	GRCh37
NC_000008.9:g.91036805G>T	NCBI36
NG_008860.1:g.34271C>A , LRG_158:g.34271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2581C>A
ENST00000517337.2:c.1033C>A	ENSP00000429971.2:p.Pro345Thr
ENST00000523444.2:c.1033C>A	ENSP00000428252.2:p.Pro345Thr
ENST00000697292.1:c.1279C>A	ENSP00000513229.1:p.Pro427Thr
ENST00000697293.1:c.1279C>A	ENSP00000513230.1:p.Pro427Thr
ENST00000697294.1:c.*890C>A	ENSP00000513231.1:n.*890C>A
ENST00000697295.1:c.*588C>A	ENSP00000513232.1:n.*588C>A
ENST00000697296.1:c.*947C>A	ENSP00000513233.1:n.*947C>A
ENST00000697297.1:n.3064C>A
ENST00000697298.1:c.1033C>A	ENSP00000513234.1:p.Pro345Thr
ENST00000697299.1:c.1033C>A	ENSP00000513235.1:p.Pro345Thr
ENST00000697300.1:c.*883C>A	ENSP00000513236.1:n.*883C>A
ENST00000697301.1:c.*800C>A	ENSP00000513237.1:n.*800C>A
ENST00000697302.1:c.*800C>A	ENSP00000513238.1:n.*800C>A
ENST00000697303.1:c.*883C>A	ENSP00000513239.1:n.*883C>A
ENST00000697304.1:c.967C>A	ENSP00000513240.1:p.Pro323Thr
ENST00000697306.1:c.*279C>A	ENSP00000513241.1:n.*279C>A
ENST00000697307.1:c.1279C>A	ENSP00000513242.1:p.Pro427Thr
ENST00000697308.1:c.1279C>A	ENSP00000513243.1:p.Pro427Thr
ENST00000697309.1:c.1279C>A	ENSP00000513244.1:p.Pro427Thr
ENST00000697310.1:c.1279C>A	ENSP00000513245.1:p.Pro427Thr
ENST00000697311.1:c.1279C>A	ENSP00000513246.1:p.Pro427Thr
ENST00000697312.1:c.*677C>A	ENSP00000513247.1:n.*677C>A
ENST00000697313.1:n.2687+14963C>A
ENST00000697314.1:n.3070C>A
ENST00000697315.1:c.1279C>A	ENSP00000513248.1:p.Pro427Thr
ENST00000697316.1:n.1400C>A
ENST00000697317.1:n.1389C>A
ENST00000697318.1:n.1391C>A
ENST00000265433.8:c.1279C>A MANE Select	ENSP00000265433.4:p.Pro427Thr
ENST00000265433.7:c.1279C>A	ENSP00000265433.3:p.Pro427Thr
ENST00000396252.6:c.*1152C>A	ENSP00000379551.2:n.*1152C>A
ENST00000409330.5:c.1033C>A	ENSP00000386924.1:p.Pro345Thr
NM_001024688.2:c.1033C>A	NP_001019859.1:p.Pro345Thr
NM_002485.4:c.1279C>A , LRG_158t1:c.1279C>A	NP_002476.2:p.Pro427Thr
XM_011517044.1:c.1255C>A	XP_011515346.1:p.Pro419Thr
XM_011517045.1:c.1033C>A	XP_011515347.1:p.Pro345Thr
XM_011517046.1:c.1279C>A	XP_011515348.1:p.Pro427Thr
XR_928335.1:n.1416C>A
XM_017013460.1:c.400C>A	XP_016868949.1:p.Pro134Thr
XM_017013462.2:c.400C>A	XP_016868951.1:p.Pro134Thr
XM_024447163.1:c.1033C>A	XP_024302931.1:p.Pro345Thr
XM_024447164.1:c.1033C>A	XP_024302932.1:p.Pro345Thr
XM_024447165.1:c.400C>A	XP_024302933.1:p.Pro134Thr
NM_002485.5:c.1279C>A MANE Select	NP_002476.2:p.Pro427Thr
NM_001024688.3:c.1033C>A	NP_001019859.1:p.Pro345Thr