Canonical Allele Identifier: CA371676688

Gene: NBN

Linked Data

• ClinVar Variation Id: 480067
• ClinVar RCV Id: RCV000572263 ; RCV001071174 ; RCV001821661
• dbSNP Id: rs1554556579
• gnomAD v4: 8-89946263-C-T
• MyVariant Identifiers: chr8:g.90958491C>T (hg19) ; chr8:g.89946263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946263C>T , CM000670.2:g.89946263C>T	GRCh38
NC_000008.10:g.90958491C>T , CM000670.1:g.90958491C>T	GRCh37
NC_000008.9:g.91027667C>T	NCBI36
NG_008860.1:g.43409G>A , LRG_158:g.43409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3249G>A
ENST00000517337.2:c.1701G>A	ENSP00000429971.2:p.Met567Ile
ENST00000523444.2:c.1701G>A	ENSP00000428252.2:p.Met567Ile
ENST00000697292.1:c.1947G>A	ENSP00000513229.1:p.Met649Ile
ENST00000697293.1:c.1947G>A	ENSP00000513230.1:p.Met649Ile
ENST00000697294.1:c.*1558G>A	ENSP00000513231.1:n.*1558G>A
ENST00000697295.1:c.*1256G>A	ENSP00000513232.1:n.*1256G>A
ENST00000697296.1:c.*1615G>A	ENSP00000513233.1:n.*1615G>A
ENST00000697297.1:n.3732G>A
ENST00000697298.1:c.1701G>A	ENSP00000513234.1:p.Met567Ile
ENST00000697299.1:c.1701G>A	ENSP00000513235.1:p.Met567Ile
ENST00000697300.1:c.*1551G>A	ENSP00000513236.1:n.*1551G>A
ENST00000697301.1:c.*1468G>A	ENSP00000513237.1:n.*1468G>A
ENST00000697302.1:c.*1468G>A	ENSP00000513238.1:n.*1468G>A
ENST00000697303.1:c.*1551G>A	ENSP00000513239.1:n.*1551G>A
ENST00000697304.1:c.1635G>A	ENSP00000513240.1:p.Met545Ile
ENST00000697306.1:c.*2498G>A	ENSP00000513241.1:n.*2498G>A
ENST00000697307.1:c.1846-2897G>A	ENSP00000513242.1:n.1846-2897G>A
ENST00000697308.1:c.1878G>A	ENSP00000513243.1:p.Met626Ile
ENST00000697309.1:c.1947G>A	ENSP00000513244.1:p.Met649Ile
ENST00000697310.1:c.1947G>A	ENSP00000513245.1:p.Met649Ile
ENST00000697311.1:c.1947G>A	ENSP00000513246.1:p.Met649Ile
ENST00000697312.1:c.*1345G>A	ENSP00000513247.1:n.*1345G>A
ENST00000697313.1:n.2688-10651G>A
ENST00000697314.1:n.3636+6981G>A
ENST00000697315.1:c.1947G>A	ENSP00000513248.1:p.Met649Ile
ENST00000697316.1:n.2068G>A
ENST00000697317.1:n.2038G>A
ENST00000265433.8:c.1947G>A MANE Select	ENSP00000265433.4:p.Met649Ile
ENST00000265433.7:c.1947G>A	ENSP00000265433.3:p.Met649Ile
ENST00000396252.6:c.*1820G>A	ENSP00000379551.2:n.*1820G>A
ENST00000409330.5:c.1701G>A	ENSP00000386924.1:p.Met567Ile
ENST00000520325.1:n.363G>A
ENST00000613033.1:c.180+1561G>A	ENSP00000484487.1:n.180+1561G>A
NM_001024688.2:c.1701G>A	NP_001019859.1:p.Met567Ile
NM_002485.4:c.1947G>A , LRG_158t1:c.1947G>A	NP_002476.2:p.Met649Ile
XM_011517044.1:c.1923G>A	XP_011515346.1:p.Met641Ile
XM_011517045.1:c.1701G>A	XP_011515347.1:p.Met567Ile
XR_928335.1:n.2086G>A
XM_017013460.1:c.1068G>A	XP_016868949.1:p.Met356Ile
XM_017013462.2:c.1068G>A	XP_016868951.1:p.Met356Ile
XM_024447163.1:c.1701G>A	XP_024302931.1:p.Met567Ile
XM_024447164.1:c.1701G>A	XP_024302932.1:p.Met567Ile
XM_024447165.1:c.1068G>A	XP_024302933.1:p.Met356Ile
NM_002485.5:c.1947G>A MANE Select	NP_002476.2:p.Met649Ile
NM_001024688.3:c.1701G>A	NP_001019859.1:p.Met567Ile