Canonical Allele Identifier: CA371674757

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949264C>G (hg19) ; chr8:g.89937036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937036C>G , CM000670.2:g.89937036C>G	GRCh38
NC_000008.10:g.90949264C>G , CM000670.1:g.90949264C>G	GRCh37
NC_000008.9:g.91018440C>G	NCBI36
NG_008860.1:g.52636G>C , LRG_158:g.52636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3644G>C
ENST00000494804.2:n.3526G>C
ENST00000517337.2:c.1978G>C	ENSP00000429971.2:p.Asp660His
ENST00000523444.2:c.1978G>C	ENSP00000428252.2:p.Asp660His
ENST00000697292.1:c.2224G>C	ENSP00000513229.1:p.Asp742His
ENST00000697293.1:c.2275G>C	ENSP00000513230.1:p.Asp759His
ENST00000697294.1:c.*1835G>C	ENSP00000513231.1:n.*1835G>C
ENST00000697295.1:c.*1533G>C	ENSP00000513232.1:n.*1533G>C
ENST00000697296.1:c.*1892G>C	ENSP00000513233.1:n.*1892G>C
ENST00000697297.1:n.4009G>C
ENST00000697298.1:c.1978G>C	ENSP00000513234.1:p.Asp660His
ENST00000697299.1:c.1978G>C	ENSP00000513235.1:p.Asp660His
ENST00000697300.1:c.*1828G>C	ENSP00000513236.1:n.*1828G>C
ENST00000697301.1:c.*1745G>C	ENSP00000513237.1:n.*1745G>C
ENST00000697302.1:c.*1745G>C	ENSP00000513238.1:n.*1745G>C
ENST00000697303.1:c.*1828G>C	ENSP00000513239.1:n.*1828G>C
ENST00000697304.1:c.1912G>C	ENSP00000513240.1:p.Asp638His
ENST00000697305.1:n.2491G>C
ENST00000697306.1:c.*2775G>C	ENSP00000513241.1:n.*2775G>C
ENST00000697307.1:c.1999G>C	ENSP00000513242.1:p.Asp667His
ENST00000697308.1:c.2155G>C	ENSP00000513243.1:p.Asp719His
ENST00000697309.1:c.2185-1424G>C	ENSP00000513244.1:n.2185-1424G>C
ENST00000697310.1:c.2224G>C	ENSP00000513245.1:p.Asp742His
ENST00000697311.1:c.*489G>C	ENSP00000513246.1:n.*489G>C
ENST00000697312.1:c.*1677G>C	ENSP00000513247.1:n.*1677G>C
ENST00000697313.1:n.2688-1424G>C
ENST00000697314.1:n.3637-1424G>C
ENST00000697315.1:c.*128G>C	ENSP00000513248.1:n.*128G>C
ENST00000697316.1:n.2345G>C
ENST00000265433.8:c.2224G>C MANE Select	ENSP00000265433.4:p.Asp742His
ENST00000265433.7:c.2224G>C	ENSP00000265433.3:p.Asp742His
ENST00000396252.6:c.*2097G>C	ENSP00000379551.2:n.*2097G>C
ENST00000409330.5:c.1978G>C	ENSP00000386924.1:p.Asp660His
ENST00000474821.1:n.312G>C
ENST00000613033.1:c.334G>C	ENSP00000484487.1:p.Asp112His
NM_001024688.2:c.1978G>C	NP_001019859.1:p.Asp660His
NM_002485.4:c.2224G>C , LRG_158t1:c.2224G>C	NP_002476.2:p.Asp742His
XM_011517044.1:c.2200G>C	XP_011515346.1:p.Asp734His
XM_011517045.1:c.1978G>C	XP_011515347.1:p.Asp660His
XM_017013460.1:c.1345G>C	XP_016868949.1:p.Asp449His
XM_017013462.2:c.1345G>C	XP_016868951.1:p.Asp449His
XM_024447163.1:c.1978G>C	XP_024302931.1:p.Asp660His
XM_024447164.1:c.1978G>C	XP_024302932.1:p.Asp660His
XM_024447165.1:c.1345G>C	XP_024302933.1:p.Asp449His
NM_002485.5:c.2224G>C MANE Select	NP_002476.2:p.Asp742His
NM_001024688.3:c.1978G>C	NP_001019859.1:p.Asp660His