Canonical Allele Identifier: CA371663197

Gene: NBN

Linked Data

• ClinVar Variation Id: 1965250
• ClinVar RCV Id: RCV002726667
• gnomAD v4: 8-89982782-A-T
• MyVariant Identifiers: chr8:g.90995010A>T (hg19) ; chr8:g.89982782A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89982782A>T , CM000670.2:g.89982782A>T	GRCh38
NC_000008.10:g.90995010A>T , CM000670.1:g.90995010A>T	GRCh37
NC_000008.9:g.91064186A>T	NCBI36
NG_008860.1:g.6890T>A , LRG_158:g.6890T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.215T>A
ENST00000517337.2:c.-186T>A	ENSP00000429971.2:n.-186T>A
ENST00000523444.2:c.-186T>A	ENSP00000428252.2:n.-186T>A
ENST00000697292.1:c.111T>A	ENSP00000513229.1:p.Asn37Lys
ENST00000697293.1:c.111T>A	ENSP00000513230.1:p.Asn37Lys
ENST00000697294.1:c.111T>A	ENSP00000513231.1:p.Asn37Lys
ENST00000697295.1:c.37+1743T>A	ENSP00000513232.1:n.37+1743T>A
ENST00000697296.1:c.111T>A	ENSP00000513233.1:p.Asn37Lys
ENST00000697297.1:n.217T>A
ENST00000697298.1:c.-186T>A	ENSP00000513234.1:n.-186T>A
ENST00000697299.1:c.-75-1259T>A	ENSP00000513235.1:n.-75-1259T>A
ENST00000697300.1:c.-186T>A	ENSP00000513236.1:n.-186T>A
ENST00000697301.1:c.-186T>A	ENSP00000513237.1:n.-186T>A
ENST00000697302.1:c.111T>A	ENSP00000513238.1:p.Asn37Lys
ENST00000697303.1:c.111T>A	ENSP00000513239.1:p.Asn37Lys
ENST00000697304.1:c.111T>A	ENSP00000513240.1:p.Asn37Lys
ENST00000697306.1:c.111T>A	ENSP00000513241.1:p.Asn37Lys
ENST00000697307.1:c.111T>A	ENSP00000513242.1:p.Asn37Lys
ENST00000697308.1:c.111T>A	ENSP00000513243.1:p.Asn37Lys
ENST00000697309.1:c.111T>A	ENSP00000513244.1:p.Asn37Lys
ENST00000697310.1:c.111T>A	ENSP00000513245.1:p.Asn37Lys
ENST00000697311.1:c.111T>A	ENSP00000513246.1:p.Asn37Lys
ENST00000697312.1:c.111T>A	ENSP00000513247.1:p.Asn37Lys
ENST00000697313.1:n.223T>A
ENST00000697314.1:n.223T>A
ENST00000697315.1:c.111T>A	ENSP00000513248.1:p.Asn37Lys
ENST00000697316.1:n.232T>A
ENST00000697317.1:n.221T>A
ENST00000697318.1:n.223T>A
ENST00000265433.8:c.111T>A MANE Select	ENSP00000265433.4:p.Asn37Lys
ENST00000265433.7:c.111T>A	ENSP00000265433.3:p.Asn37Lys
ENST00000396252.6:c.111T>A	ENSP00000379551.2:p.Asn37Lys
ENST00000409330.5:c.-136T>A	ENSP00000386924.1:n.-136T>A
ENST00000494804.1:n.215T>A
ENST00000517337.1:c.-186T>A	ENSP00000429971.1:n.-186T>A
ENST00000519426.5:c.111T>A	ENSP00000430983.1:p.Asn37Lys
ENST00000523444.1:c.111T>A	ENSP00000428252.1:p.Asn37Lys
NM_001024688.2:c.-186T>A	NP_001019859.1:n.-186T>A
NM_002485.4:c.111T>A , LRG_158t1:c.111T>A	NP_002476.2:p.Asn37Lys
XM_011517044.1:c.87T>A	XP_011515346.1:p.Asn29Lys
XM_011517045.1:c.-186T>A	XP_011515347.1:n.-186T>A
XM_011517046.1:c.111T>A	XP_011515348.1:p.Asn37Lys
XR_928335.1:n.248T>A
XM_017013460.1:c.-909T>A	XP_016868949.1:n.-909T>A
XM_017013462.2:c.-715T>A	XP_016868951.1:n.-715T>A
XM_024447163.1:c.-136T>A	XP_024302931.1:n.-136T>A
XM_024447165.1:c.-859T>A	XP_024302933.1:n.-859T>A
NM_002485.5:c.111T>A MANE Select	NP_002476.2:p.Asn37Lys
NM_001024688.3:c.-186T>A	NP_001019859.1:n.-186T>A