Canonical Allele Identifier: CA371674758

Gene: NBN

Linked Data

• ClinVar Variation Id: 1787976
• ClinVar RCV Id: RCV002428121 ; RCV003618027
• dbSNP Id: rs746479577
• gnomAD v2: 8-90949264-C-T
• gnomAD v4: 8-89937036-C-T
• MyVariant Identifiers: chr8:g.90949264C>T (hg19) ; chr8:g.89937036C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3644G>A
ENST00000494804.2:n.3526G>A
ENST00000517337.2:c.1978G>A	ENSP00000429971.2:p.Asp660Asn
ENST00000523444.2:c.1978G>A	ENSP00000428252.2:p.Asp660Asn
ENST00000697292.1:c.2224G>A	ENSP00000513229.1:p.Asp742Asn
ENST00000697293.1:c.2275G>A	ENSP00000513230.1:p.Asp759Asn
ENST00000697294.1:c.*1835G>A	ENSP00000513231.1:n.*1835G>A
ENST00000697295.1:c.*1533G>A	ENSP00000513232.1:n.*1533G>A
ENST00000697296.1:c.*1892G>A	ENSP00000513233.1:n.*1892G>A
ENST00000697297.1:n.4009G>A
ENST00000697298.1:c.1978G>A	ENSP00000513234.1:p.Asp660Asn
ENST00000697299.1:c.1978G>A	ENSP00000513235.1:p.Asp660Asn
ENST00000697300.1:c.*1828G>A	ENSP00000513236.1:n.*1828G>A
ENST00000697301.1:c.*1745G>A	ENSP00000513237.1:n.*1745G>A
ENST00000697302.1:c.*1745G>A	ENSP00000513238.1:n.*1745G>A
ENST00000697303.1:c.*1828G>A	ENSP00000513239.1:n.*1828G>A
ENST00000697304.1:c.1912G>A	ENSP00000513240.1:p.Asp638Asn
ENST00000697305.1:n.2491G>A
ENST00000697306.1:c.*2775G>A	ENSP00000513241.1:n.*2775G>A
ENST00000697307.1:c.1999G>A	ENSP00000513242.1:p.Asp667Asn
ENST00000697308.1:c.2155G>A	ENSP00000513243.1:p.Asp719Asn
ENST00000697309.1:c.2185-1424G>A	ENSP00000513244.1:n.2185-1424G>A
ENST00000697310.1:c.2224G>A	ENSP00000513245.1:p.Asp742Asn
ENST00000697311.1:c.*489G>A	ENSP00000513246.1:n.*489G>A
ENST00000697312.1:c.*1677G>A	ENSP00000513247.1:n.*1677G>A
ENST00000697313.1:n.2688-1424G>A
ENST00000697314.1:n.3637-1424G>A
ENST00000697315.1:c.*128G>A	ENSP00000513248.1:n.*128G>A
ENST00000697316.1:n.2345G>A
ENST00000265433.8:c.2224G>A MANE Select	ENSP00000265433.4:p.Asp742Asn
ENST00000265433.7:c.2224G>A	ENSP00000265433.3:p.Asp742Asn
ENST00000396252.6:c.*2097G>A	ENSP00000379551.2:n.*2097G>A
ENST00000409330.5:c.1978G>A	ENSP00000386924.1:p.Asp660Asn
ENST00000474821.1:n.312G>A
ENST00000613033.1:c.334G>A	ENSP00000484487.1:p.Asp112Asn
NM_001024688.2:c.1978G>A	NP_001019859.1:p.Asp660Asn
NM_002485.4:c.2224G>A , LRG_158t1:c.2224G>A	NP_002476.2:p.Asp742Asn
XM_011517044.1:c.2200G>A	XP_011515346.1:p.Asp734Asn
XM_011517045.1:c.1978G>A	XP_011515347.1:p.Asp660Asn
XM_017013460.1:c.1345G>A	XP_016868949.1:p.Asp449Asn
XM_017013462.2:c.1345G>A	XP_016868951.1:p.Asp449Asn
XM_024447163.1:c.1978G>A	XP_024302931.1:p.Asp660Asn
XM_024447164.1:c.1978G>A	XP_024302932.1:p.Asp660Asn
XM_024447165.1:c.1345G>A	XP_024302933.1:p.Asp449Asn
NM_002485.5:c.2224G>A MANE Select	NP_002476.2:p.Asp742Asn
NM_001024688.3:c.1978G>A	NP_001019859.1:p.Asp660Asn