Canonical Allele Identifier: CA461837552
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1107681
ClinVar RCV Id: RCV001432924
dbSNP Id: rs2130756163
gnomAD v4: 8-89943352-T-C
MyVariant Identifiers: chr8:g.90955580T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89943352T>C , CM000670.2:g.89943352T>C GRCh38
NC_000008.10:g.90955580T>C , CM000670.1:g.90955580T>C GRCh37
NC_000008.9:g.91024756T>C NCBI36
NG_008860.1:g.46320A>G , LRG_158:g.46320A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3387A>G
ENST00000517337.2:c.1839A>G ENSP00000429971.2:p.Gly613=
ENST00000523444.2:c.1839A>G ENSP00000428252.2:p.Gly613=
ENST00000697292.1:c.2085A>G ENSP00000513229.1:p.Gly695=
ENST00000697293.1:c.2085A>G ENSP00000513230.1:p.Gly695=
ENST00000697294.1:c.*1696A>G ENSP00000513231.1:n.*1696A>G
ENST00000697295.1:c.*1394A>G ENSP00000513232.1:n.*1394A>G
ENST00000697296.1:c.*1753A>G ENSP00000513233.1:n.*1753A>G
ENST00000697297.1:n.3870A>G
ENST00000697298.1:c.1839A>G ENSP00000513234.1:p.Gly613=
ENST00000697299.1:c.1839A>G ENSP00000513235.1:p.Gly613=
ENST00000697300.1:c.*1689A>G ENSP00000513236.1:n.*1689A>G
ENST00000697301.1:c.*1606A>G ENSP00000513237.1:n.*1606A>G
ENST00000697302.1:c.*1606A>G ENSP00000513238.1:n.*1606A>G
ENST00000697303.1:c.*1689A>G ENSP00000513239.1:n.*1689A>G
ENST00000697304.1:c.1773A>G ENSP00000513240.1:p.Gly591=
ENST00000697305.1:n.2352A>G
ENST00000697306.1:c.*2636A>G ENSP00000513241.1:n.*2636A>G
ENST00000697307.1:c.1860A>G ENSP00000513242.1:p.Gly620=
ENST00000697308.1:c.2016A>G ENSP00000513243.1:p.Gly672=
ENST00000697309.1:c.2085A>G ENSP00000513244.1:p.Gly695=
ENST00000697310.1:c.2085A>G ENSP00000513245.1:p.Gly695=
ENST00000697311.1:c.2085A>G ENSP00000513246.1:p.Gly695=
ENST00000697312.1:c.*1483A>G ENSP00000513247.1:n.*1483A>G
ENST00000697313.1:n.2688-7740A>G
ENST00000697314.1:n.3637-7740A>G
ENST00000697315.1:c.2085A>G ENSP00000513248.1:p.Gly695=
ENST00000697316.1:n.2206A>G
ENST00000265433.8:c.2085A>G MANE Select ENSP00000265433.4:p.Gly695=
ENST00000265433.7:c.2085A>G ENSP00000265433.3:p.Gly695=
ENST00000396252.6:c.*1958A>G ENSP00000379551.2:n.*1958A>G
ENST00000409330.5:c.1839A>G ENSP00000386924.1:p.Gly613=
ENST00000613033.1:c.195A>G ENSP00000484487.1:p.Gly65=
NM_001024688.2:c.1839A>G NP_001019859.1:p.Gly613=
NM_002485.4:c.2085A>G , LRG_158t1:c.2085A>G NP_002476.2:p.Gly695=
XM_011517044.1:c.2061A>G XP_011515346.1:p.Gly687=
XM_011517045.1:c.1839A>G XP_011515347.1:p.Gly613=
XM_017013460.1:c.1206A>G XP_016868949.1:p.Gly402=
XM_017013462.2:c.1206A>G XP_016868951.1:p.Gly402=
XM_024447163.1:c.1839A>G XP_024302931.1:p.Gly613=
XM_024447164.1:c.1839A>G XP_024302932.1:p.Gly613=
XM_024447165.1:c.1206A>G XP_024302933.1:p.Gly402=
NM_002485.5:c.2085A>G MANE Select NP_002476.2:p.Gly695=
NM_001024688.3:c.1839A>G NP_001019859.1:p.Gly613=