Canonical Allele Identifier: CA371674738

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949254C>G (hg19) ; chr8:g.89937026C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937026C>G , CM000670.2:g.89937026C>G	GRCh38
NC_000008.10:g.90949254C>G , CM000670.1:g.90949254C>G	GRCh37
NC_000008.9:g.91018430C>G	NCBI36
NG_008860.1:g.52646G>C , LRG_158:g.52646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3654G>C
ENST00000494804.2:n.3536G>C
ENST00000517337.2:c.1988G>C	ENSP00000429971.2:p.Arg663Thr
ENST00000523444.2:c.1988G>C	ENSP00000428252.2:p.Arg663Thr
ENST00000697292.1:c.2234G>C	ENSP00000513229.1:p.Arg745Thr
ENST00000697293.1:c.2285G>C	ENSP00000513230.1:p.Arg762Thr
ENST00000697294.1:c.*1845G>C	ENSP00000513231.1:n.*1845G>C
ENST00000697295.1:c.*1543G>C	ENSP00000513232.1:n.*1543G>C
ENST00000697296.1:c.*1902G>C	ENSP00000513233.1:n.*1902G>C
ENST00000697297.1:n.4019G>C
ENST00000697298.1:c.1988G>C	ENSP00000513234.1:p.Arg663Thr
ENST00000697299.1:c.1988G>C	ENSP00000513235.1:p.Arg663Thr
ENST00000697300.1:c.*1838G>C	ENSP00000513236.1:n.*1838G>C
ENST00000697301.1:c.*1755G>C	ENSP00000513237.1:n.*1755G>C
ENST00000697302.1:c.*1755G>C	ENSP00000513238.1:n.*1755G>C
ENST00000697303.1:c.*1838G>C	ENSP00000513239.1:n.*1838G>C
ENST00000697304.1:c.1922G>C	ENSP00000513240.1:p.Arg641Thr
ENST00000697305.1:n.2501G>C
ENST00000697306.1:c.*2785G>C	ENSP00000513241.1:n.*2785G>C
ENST00000697307.1:c.2009G>C	ENSP00000513242.1:p.Arg670Thr
ENST00000697308.1:c.2165G>C	ENSP00000513243.1:p.Arg722Thr
ENST00000697309.1:c.2185-1414G>C	ENSP00000513244.1:n.2185-1414G>C
ENST00000697310.1:c.2234G>C	ENSP00000513245.1:p.Arg745Thr
ENST00000697311.1:c.*499G>C	ENSP00000513246.1:n.*499G>C
ENST00000697312.1:c.*1687G>C	ENSP00000513247.1:n.*1687G>C
ENST00000697313.1:n.2688-1414G>C
ENST00000697314.1:n.3637-1414G>C
ENST00000697315.1:c.*138G>C	ENSP00000513248.1:n.*138G>C
ENST00000697316.1:n.2355G>C
ENST00000265433.8:c.2234G>C MANE Select	ENSP00000265433.4:p.Arg745Thr
ENST00000265433.7:c.2234G>C	ENSP00000265433.3:p.Arg745Thr
ENST00000396252.6:c.*2107G>C	ENSP00000379551.2:n.*2107G>C
ENST00000409330.5:c.1988G>C	ENSP00000386924.1:p.Arg663Thr
ENST00000474821.1:n.322G>C
ENST00000613033.1:c.344G>C	ENSP00000484487.1:p.Arg115Thr
NM_001024688.2:c.1988G>C	NP_001019859.1:p.Arg663Thr
NM_002485.4:c.2234G>C , LRG_158t1:c.2234G>C	NP_002476.2:p.Arg745Thr
XM_011517044.1:c.2210G>C	XP_011515346.1:p.Arg737Thr
XM_011517045.1:c.1988G>C	XP_011515347.1:p.Arg663Thr
XM_017013460.1:c.1355G>C	XP_016868949.1:p.Arg452Thr
XM_017013462.2:c.1355G>C	XP_016868951.1:p.Arg452Thr
XM_024447163.1:c.1988G>C	XP_024302931.1:p.Arg663Thr
XM_024447164.1:c.1988G>C	XP_024302932.1:p.Arg663Thr
XM_024447165.1:c.1355G>C	XP_024302933.1:p.Arg452Thr
NM_002485.5:c.2234G>C MANE Select	NP_002476.2:p.Arg745Thr
NM_001024688.3:c.1988G>C	NP_001019859.1:p.Arg663Thr