Canonical Allele Identifier: CA371676488

Gene: NBN

Linked Data

• ClinVar Variation Id: 1498788
• ClinVar RCV Id: RCV002010282
• dbSNP Id: rs2129647841
• MyVariant Identifiers: chr8:g.90958448T>A (hg19) ; chr8:g.89946220T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946220T>A , CM000670.2:g.89946220T>A	GRCh38
NC_000008.10:g.90958448T>A , CM000670.1:g.90958448T>A	GRCh37
NC_000008.9:g.91027624T>A	NCBI36
NG_008860.1:g.43452A>T , LRG_158:g.43452A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3292A>T
ENST00000517337.2:c.1744A>T	ENSP00000429971.2:p.Ile582Phe
ENST00000523444.2:c.1744A>T	ENSP00000428252.2:p.Ile582Phe
ENST00000697292.1:c.1990A>T	ENSP00000513229.1:p.Ile664Phe
ENST00000697293.1:c.1990A>T	ENSP00000513230.1:p.Ile664Phe
ENST00000697294.1:c.*1601A>T	ENSP00000513231.1:n.*1601A>T
ENST00000697295.1:c.*1299A>T	ENSP00000513232.1:n.*1299A>T
ENST00000697296.1:c.*1658A>T	ENSP00000513233.1:n.*1658A>T
ENST00000697297.1:n.3775A>T
ENST00000697298.1:c.1744A>T	ENSP00000513234.1:p.Ile582Phe
ENST00000697299.1:c.1744A>T	ENSP00000513235.1:p.Ile582Phe
ENST00000697300.1:c.*1594A>T	ENSP00000513236.1:n.*1594A>T
ENST00000697301.1:c.*1511A>T	ENSP00000513237.1:n.*1511A>T
ENST00000697302.1:c.*1511A>T	ENSP00000513238.1:n.*1511A>T
ENST00000697303.1:c.*1594A>T	ENSP00000513239.1:n.*1594A>T
ENST00000697304.1:c.1678A>T	ENSP00000513240.1:p.Ile560Phe
ENST00000697306.1:c.*2541A>T	ENSP00000513241.1:n.*2541A>T
ENST00000697307.1:c.1846-2854A>T	ENSP00000513242.1:n.1846-2854A>T
ENST00000697308.1:c.1921A>T	ENSP00000513243.1:p.Ile641Phe
ENST00000697309.1:c.1990A>T	ENSP00000513244.1:p.Ile664Phe
ENST00000697310.1:c.1990A>T	ENSP00000513245.1:p.Ile664Phe
ENST00000697311.1:c.1990A>T	ENSP00000513246.1:p.Ile664Phe
ENST00000697312.1:c.*1388A>T	ENSP00000513247.1:n.*1388A>T
ENST00000697313.1:n.2688-10608A>T
ENST00000697314.1:n.3636+7024A>T
ENST00000697315.1:c.1990A>T	ENSP00000513248.1:p.Ile664Phe
ENST00000697316.1:n.2111A>T
ENST00000697317.1:n.2081A>T
ENST00000265433.8:c.1990A>T MANE Select	ENSP00000265433.4:p.Ile664Phe
ENST00000265433.7:c.1990A>T	ENSP00000265433.3:p.Ile664Phe
ENST00000396252.6:c.*1863A>T	ENSP00000379551.2:n.*1863A>T
ENST00000409330.5:c.1744A>T	ENSP00000386924.1:p.Ile582Phe
ENST00000520325.1:n.406A>T
ENST00000613033.1:c.180+1604A>T	ENSP00000484487.1:n.180+1604A>T
NM_001024688.2:c.1744A>T	NP_001019859.1:p.Ile582Phe
NM_002485.4:c.1990A>T , LRG_158t1:c.1990A>T	NP_002476.2:p.Ile664Phe
XM_011517044.1:c.1966A>T	XP_011515346.1:p.Ile656Phe
XM_011517045.1:c.1744A>T	XP_011515347.1:p.Ile582Phe
XM_017013460.1:c.1111A>T	XP_016868949.1:p.Ile371Phe
XM_017013462.2:c.1111A>T	XP_016868951.1:p.Ile371Phe
XM_024447163.1:c.1744A>T	XP_024302931.1:p.Ile582Phe
XM_024447164.1:c.1744A>T	XP_024302932.1:p.Ile582Phe
XM_024447165.1:c.1111A>T	XP_024302933.1:p.Ile371Phe
NM_002485.5:c.1990A>T MANE Select	NP_002476.2:p.Ile664Phe
NM_001024688.3:c.1744A>T	NP_001019859.1:p.Ile582Phe