Canonical Allele Identifier: CA371674774

Gene: NBN

Linked Data

• ClinVar Variation Id: 1171798
• ClinVar RCV Id: RCV001872072
• dbSNP Id: rs2130739195
• gnomAD v4: 8-89937044-A-G
• MyVariant Identifiers: chr8:g.90949272A>G (hg19) ; chr8:g.89937044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937044A>G , CM000670.2:g.89937044A>G	GRCh38
NC_000008.10:g.90949272A>G , CM000670.1:g.90949272A>G	GRCh37
NC_000008.9:g.91018448A>G	NCBI36
NG_008860.1:g.52628T>C , LRG_158:g.52628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3636T>C
ENST00000494804.2:n.3518T>C
ENST00000517337.2:c.1970T>C	ENSP00000429971.2:p.Leu657Pro
ENST00000523444.2:c.1970T>C	ENSP00000428252.2:p.Leu657Pro
ENST00000697292.1:c.2216T>C	ENSP00000513229.1:p.Leu739Pro
ENST00000697293.1:c.2267T>C	ENSP00000513230.1:p.Leu756Pro
ENST00000697294.1:c.*1827T>C	ENSP00000513231.1:n.*1827T>C
ENST00000697295.1:c.*1525T>C	ENSP00000513232.1:n.*1525T>C
ENST00000697296.1:c.*1884T>C	ENSP00000513233.1:n.*1884T>C
ENST00000697297.1:n.4001T>C
ENST00000697298.1:c.1970T>C	ENSP00000513234.1:p.Leu657Pro
ENST00000697299.1:c.1970T>C	ENSP00000513235.1:p.Leu657Pro
ENST00000697300.1:c.*1820T>C	ENSP00000513236.1:n.*1820T>C
ENST00000697301.1:c.*1737T>C	ENSP00000513237.1:n.*1737T>C
ENST00000697302.1:c.*1737T>C	ENSP00000513238.1:n.*1737T>C
ENST00000697303.1:c.*1820T>C	ENSP00000513239.1:n.*1820T>C
ENST00000697304.1:c.1904T>C	ENSP00000513240.1:p.Leu635Pro
ENST00000697305.1:n.2483T>C
ENST00000697306.1:c.*2767T>C	ENSP00000513241.1:n.*2767T>C
ENST00000697307.1:c.1991T>C	ENSP00000513242.1:p.Leu664Pro
ENST00000697308.1:c.2147T>C	ENSP00000513243.1:p.Leu716Pro
ENST00000697309.1:c.2185-1432T>C	ENSP00000513244.1:n.2185-1432T>C
ENST00000697310.1:c.2216T>C	ENSP00000513245.1:p.Leu739Pro
ENST00000697311.1:c.*481T>C	ENSP00000513246.1:n.*481T>C
ENST00000697312.1:c.*1669T>C	ENSP00000513247.1:n.*1669T>C
ENST00000697313.1:n.2688-1432T>C
ENST00000697314.1:n.3637-1432T>C
ENST00000697315.1:c.*120T>C	ENSP00000513248.1:n.*120T>C
ENST00000697316.1:n.2337T>C
ENST00000265433.8:c.2216T>C MANE Select	ENSP00000265433.4:p.Leu739Pro
ENST00000265433.7:c.2216T>C	ENSP00000265433.3:p.Leu739Pro
ENST00000396252.6:c.*2089T>C	ENSP00000379551.2:n.*2089T>C
ENST00000409330.5:c.1970T>C	ENSP00000386924.1:p.Leu657Pro
ENST00000474821.1:n.304T>C
ENST00000613033.1:c.326T>C	ENSP00000484487.1:p.Leu109Pro
NM_001024688.2:c.1970T>C	NP_001019859.1:p.Leu657Pro
NM_002485.4:c.2216T>C , LRG_158t1:c.2216T>C	NP_002476.2:p.Leu739Pro
XM_011517044.1:c.2192T>C	XP_011515346.1:p.Leu731Pro
XM_011517045.1:c.1970T>C	XP_011515347.1:p.Leu657Pro
XM_017013460.1:c.1337T>C	XP_016868949.1:p.Leu446Pro
XM_017013462.2:c.1337T>C	XP_016868951.1:p.Leu446Pro
XM_024447163.1:c.1970T>C	XP_024302931.1:p.Leu657Pro
XM_024447164.1:c.1970T>C	XP_024302932.1:p.Leu657Pro
XM_024447165.1:c.1337T>C	XP_024302933.1:p.Leu446Pro
NM_002485.5:c.2216T>C MANE Select	NP_002476.2:p.Leu739Pro
NM_001024688.3:c.1970T>C	NP_001019859.1:p.Leu657Pro