Canonical Allele Identifier: CA371677186

Gene: NBN

Linked Data

• gnomAD v4: 8-89947828-A-G
• MyVariant Identifiers: chr8:g.90960056A>G (hg19) ; chr8:g.89947828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947828A>G , CM000670.2:g.89947828A>G	GRCh38
NC_000008.10:g.90960056A>G , CM000670.1:g.90960056A>G	GRCh37
NC_000008.9:g.91029232A>G	NCBI36
NG_008860.1:g.41844T>C , LRG_158:g.41844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3212T>C
ENST00000517337.2:c.1664T>C	ENSP00000429971.2:p.Ile555Thr
ENST00000523444.2:c.1664T>C	ENSP00000428252.2:p.Ile555Thr
ENST00000697292.1:c.1910T>C	ENSP00000513229.1:p.Ile637Thr
ENST00000697293.1:c.1910T>C	ENSP00000513230.1:p.Ile637Thr
ENST00000697294.1:c.*1521T>C	ENSP00000513231.1:n.*1521T>C
ENST00000697295.1:c.*1219T>C	ENSP00000513232.1:n.*1219T>C
ENST00000697296.1:c.*1578T>C	ENSP00000513233.1:n.*1578T>C
ENST00000697297.1:n.3695T>C
ENST00000697298.1:c.1664T>C	ENSP00000513234.1:p.Ile555Thr
ENST00000697299.1:c.1664T>C	ENSP00000513235.1:p.Ile555Thr
ENST00000697300.1:c.*1514T>C	ENSP00000513236.1:n.*1514T>C
ENST00000697301.1:c.*1431T>C	ENSP00000513237.1:n.*1431T>C
ENST00000697302.1:c.*1431T>C	ENSP00000513238.1:n.*1431T>C
ENST00000697303.1:c.*1514T>C	ENSP00000513239.1:n.*1514T>C
ENST00000697304.1:c.1598T>C	ENSP00000513240.1:p.Ile533Thr
ENST00000697306.1:c.*933T>C	ENSP00000513241.1:n.*933T>C
ENST00000697307.1:c.1846-4462T>C	ENSP00000513242.1:n.1846-4462T>C
ENST00000697308.1:c.1846-1533T>C	ENSP00000513243.1:n.1846-1533T>C
ENST00000697309.1:c.1910T>C	ENSP00000513244.1:p.Ile637Thr
ENST00000697310.1:c.1910T>C	ENSP00000513245.1:p.Ile637Thr
ENST00000697311.1:c.1910T>C	ENSP00000513246.1:p.Ile637Thr
ENST00000697312.1:c.*1308T>C	ENSP00000513247.1:n.*1308T>C
ENST00000697313.1:n.2688-12216T>C
ENST00000697314.1:n.3636+5416T>C
ENST00000697315.1:c.1910T>C	ENSP00000513248.1:p.Ile637Thr
ENST00000697316.1:n.2031T>C
ENST00000697317.1:n.2005+15T>C
ENST00000265433.8:c.1910T>C MANE Select	ENSP00000265433.4:p.Ile637Thr
ENST00000265433.7:c.1910T>C	ENSP00000265433.3:p.Ile637Thr
ENST00000396252.6:c.*1783T>C	ENSP00000379551.2:n.*1783T>C
ENST00000409330.5:c.1664T>C	ENSP00000386924.1:p.Ile555Thr
ENST00000613033.1:c.176T>C	ENSP00000484487.1:p.Ile59Thr
NM_001024688.2:c.1664T>C	NP_001019859.1:p.Ile555Thr
NM_002485.4:c.1910T>C , LRG_158t1:c.1910T>C	NP_002476.2:p.Ile637Thr
XM_011517044.1:c.1886T>C	XP_011515346.1:p.Ile629Thr
XM_011517045.1:c.1664T>C	XP_011515347.1:p.Ile555Thr
XR_928335.1:n.2049T>C
XM_017013460.1:c.1031T>C	XP_016868949.1:p.Ile344Thr
XM_017013462.2:c.1031T>C	XP_016868951.1:p.Ile344Thr
XM_024447163.1:c.1664T>C	XP_024302931.1:p.Ile555Thr
XM_024447164.1:c.1664T>C	XP_024302932.1:p.Ile555Thr
XM_024447165.1:c.1031T>C	XP_024302933.1:p.Ile344Thr
NM_002485.5:c.1910T>C MANE Select	NP_002476.2:p.Ile637Thr
NM_001024688.3:c.1664T>C	NP_001019859.1:p.Ile555Thr