Canonical Allele Identifier: CA299657

Gene: NBN

Linked Data

• ClinVar Variation Id: 182737
• ClinVar RCV Id: RCV000160804 ; RCV000204431 ; RCV000215628 ; RCV000515171
• dbSNP Id: rs730881864
• ExAC: 8:90955525 G / A
• gnomAD v2: 8-90955525-G-A
• gnomAD v3: 8-89943297-G-A
• gnomAD v4: 8-89943297-G-A
• MyVariant Identifiers: chr8:g.90955525G>A (hg19) ; chr8:g.89943297G>A (hg38)
• PubMed: PMID:26681312

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943297G>A , CM000670.2:g.89943297G>A	GRCh38
NC_000008.10:g.90955525G>A , CM000670.1:g.90955525G>A	GRCh37
NC_000008.9:g.91024701G>A	NCBI36
NG_008860.1:g.46375C>T , LRG_158:g.46375C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3442C>T
ENST00000517337.2:c.1894C>T	ENSP00000429971.2:p.Arg632Ter
ENST00000523444.2:c.1894C>T	ENSP00000428252.2:p.Arg632Ter
ENST00000697292.1:c.2140C>T	ENSP00000513229.1:p.Arg714Ter
ENST00000697293.1:c.2140C>T	ENSP00000513230.1:p.Arg714Ter
ENST00000697294.1:c.*1751C>T	ENSP00000513231.1:n.*1751C>T
ENST00000697295.1:c.*1449C>T	ENSP00000513232.1:n.*1449C>T
ENST00000697296.1:c.*1808C>T	ENSP00000513233.1:n.*1808C>T
ENST00000697297.1:n.3925C>T
ENST00000697298.1:c.1894C>T	ENSP00000513234.1:p.Arg632Ter
ENST00000697299.1:c.1894C>T	ENSP00000513235.1:p.Arg632Ter
ENST00000697300.1:c.*1744C>T	ENSP00000513236.1:n.*1744C>T
ENST00000697301.1:c.*1661C>T	ENSP00000513237.1:n.*1661C>T
ENST00000697302.1:c.*1661C>T	ENSP00000513238.1:n.*1661C>T
ENST00000697303.1:c.*1744C>T	ENSP00000513239.1:n.*1744C>T
ENST00000697304.1:c.1828C>T	ENSP00000513240.1:p.Arg610Ter
ENST00000697305.1:n.2407C>T
ENST00000697306.1:c.*2691C>T	ENSP00000513241.1:n.*2691C>T
ENST00000697307.1:c.1915C>T	ENSP00000513242.1:p.Arg639Ter
ENST00000697308.1:c.2071C>T	ENSP00000513243.1:p.Arg691Ter
ENST00000697309.1:c.2140C>T	ENSP00000513244.1:p.Arg714Ter
ENST00000697310.1:c.2140C>T	ENSP00000513245.1:p.Arg714Ter
ENST00000697311.1:c.2140C>T	ENSP00000513246.1:p.Arg714Ter
ENST00000697312.1:c.*1538C>T	ENSP00000513247.1:n.*1538C>T
ENST00000697313.1:n.2688-7685C>T
ENST00000697314.1:n.3637-7685C>T
ENST00000697315.1:c.2140C>T	ENSP00000513248.1:p.Arg714Ter
ENST00000697316.1:n.2261C>T
ENST00000265433.8:c.2140C>T MANE Select	ENSP00000265433.4:p.Arg714Ter
ENST00000265433.7:c.2140C>T	ENSP00000265433.3:p.Arg714Ter
ENST00000396252.6:c.*2013C>T	ENSP00000379551.2:n.*2013C>T
ENST00000409330.5:c.1894C>T	ENSP00000386924.1:p.Arg632Ter
ENST00000613033.1:c.250C>T	ENSP00000484487.1:p.Arg84Ter
NM_001024688.2:c.1894C>T	NP_001019859.1:p.Arg632Ter
NM_002485.4:c.2140C>T , LRG_158t1:c.2140C>T	NP_002476.2:p.Arg714Ter
XM_011517044.1:c.2116C>T	XP_011515346.1:p.Arg706Ter
XM_011517045.1:c.1894C>T	XP_011515347.1:p.Arg632Ter
XM_017013460.1:c.1261C>T	XP_016868949.1:p.Arg421Ter
XM_017013462.2:c.1261C>T	XP_016868951.1:p.Arg421Ter
XM_024447163.1:c.1894C>T	XP_024302931.1:p.Arg632Ter
XM_024447164.1:c.1894C>T	XP_024302932.1:p.Arg632Ter
XM_024447165.1:c.1261C>T	XP_024302933.1:p.Arg421Ter
NM_002485.5:c.2140C>T MANE Select	NP_002476.2:p.Arg714Ter
NM_001024688.3:c.1894C>T	NP_001019859.1:p.Arg632Ter