Canonical Allele Identifier: CA371674838

Gene: NBN

Linked Data

• ClinVar Variation Id: 1491199
• ClinVar RCV Id: RCV002010009
• dbSNP Id: rs1554554267
• gnomAD v4: 8-89937072-G-T
• MyVariant Identifiers: chr8:g.90949300G>T (hg19) ; chr8:g.89937072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937072G>T , CM000670.2:g.89937072G>T	GRCh38
NC_000008.10:g.90949300G>T , CM000670.1:g.90949300G>T	GRCh37
NC_000008.9:g.91018476G>T	NCBI36
NG_008860.1:g.52600C>A , LRG_158:g.52600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3608C>A
ENST00000494804.2:n.3490C>A
ENST00000517337.2:c.1942C>A	ENSP00000429971.2:p.Gln648Lys
ENST00000523444.2:c.1942C>A	ENSP00000428252.2:p.Gln648Lys
ENST00000697292.1:c.2188C>A	ENSP00000513229.1:p.Gln730Lys
ENST00000697293.1:c.2239C>A	ENSP00000513230.1:p.Gln747Lys
ENST00000697294.1:c.*1799C>A	ENSP00000513231.1:n.*1799C>A
ENST00000697295.1:c.*1497C>A	ENSP00000513232.1:n.*1497C>A
ENST00000697296.1:c.*1856C>A	ENSP00000513233.1:n.*1856C>A
ENST00000697297.1:n.3973C>A
ENST00000697298.1:c.1942C>A	ENSP00000513234.1:p.Gln648Lys
ENST00000697299.1:c.1942C>A	ENSP00000513235.1:p.Gln648Lys
ENST00000697300.1:c.*1792C>A	ENSP00000513236.1:n.*1792C>A
ENST00000697301.1:c.*1709C>A	ENSP00000513237.1:n.*1709C>A
ENST00000697302.1:c.*1709C>A	ENSP00000513238.1:n.*1709C>A
ENST00000697303.1:c.*1792C>A	ENSP00000513239.1:n.*1792C>A
ENST00000697304.1:c.1876C>A	ENSP00000513240.1:p.Gln626Lys
ENST00000697305.1:n.2455C>A
ENST00000697306.1:c.*2739C>A	ENSP00000513241.1:n.*2739C>A
ENST00000697307.1:c.1963C>A	ENSP00000513242.1:p.Gln655Lys
ENST00000697308.1:c.2119C>A	ENSP00000513243.1:p.Gln707Lys
ENST00000697309.1:c.2185-1460C>A	ENSP00000513244.1:n.2185-1460C>A
ENST00000697310.1:c.2188C>A	ENSP00000513245.1:p.Gln730Lys
ENST00000697311.1:c.*453C>A	ENSP00000513246.1:n.*453C>A
ENST00000697312.1:c.*1641C>A	ENSP00000513247.1:n.*1641C>A
ENST00000697313.1:n.2688-1460C>A
ENST00000697314.1:n.3637-1460C>A
ENST00000697315.1:c.*92C>A	ENSP00000513248.1:n.*92C>A
ENST00000697316.1:n.2309C>A
ENST00000265433.8:c.2188C>A MANE Select	ENSP00000265433.4:p.Gln730Lys
ENST00000265433.7:c.2188C>A	ENSP00000265433.3:p.Gln730Lys
ENST00000396252.6:c.*2061C>A	ENSP00000379551.2:n.*2061C>A
ENST00000409330.5:c.1942C>A	ENSP00000386924.1:p.Gln648Lys
ENST00000474821.1:n.276C>A
ENST00000613033.1:c.298C>A	ENSP00000484487.1:p.Gln100Lys
NM_001024688.2:c.1942C>A	NP_001019859.1:p.Gln648Lys
NM_002485.4:c.2188C>A , LRG_158t1:c.2188C>A	NP_002476.2:p.Gln730Lys
XM_011517044.1:c.2164C>A	XP_011515346.1:p.Gln722Lys
XM_011517045.1:c.1942C>A	XP_011515347.1:p.Gln648Lys
XM_017013460.1:c.1309C>A	XP_016868949.1:p.Gln437Lys
XM_017013462.2:c.1309C>A	XP_016868951.1:p.Gln437Lys
XM_024447163.1:c.1942C>A	XP_024302931.1:p.Gln648Lys
XM_024447164.1:c.1942C>A	XP_024302932.1:p.Gln648Lys
XM_024447165.1:c.1309C>A	XP_024302933.1:p.Gln437Lys
NM_002485.5:c.2188C>A MANE Select	NP_002476.2:p.Gln730Lys
NM_001024688.3:c.1942C>A	NP_001019859.1:p.Gln648Lys