Canonical Allele Identifier: CA371658891

Gene: NBN

Linked Data

• ClinVar Variation Id: 1025023
• ClinVar RCV Id: RCV001325281 ; RCV002366200
• dbSNP Id: rs1811466776
• MyVariant Identifiers: chr8:g.90982780C>A (hg19) ; chr8:g.89970552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970552C>A , CM000670.2:g.89970552C>A	GRCh38
NC_000008.10:g.90982780C>A , CM000670.1:g.90982780C>A	GRCh37
NC_000008.9:g.91051956C>A	NCBI36
NG_008860.1:g.19120G>T , LRG_158:g.19120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2010G>T
ENST00000517337.2:c.462G>T	ENSP00000429971.2:p.Lys154Asn
ENST00000523444.2:c.462G>T	ENSP00000428252.2:p.Lys154Asn
ENST00000697292.1:c.708G>T	ENSP00000513229.1:p.Lys236Asn
ENST00000697293.1:c.708G>T	ENSP00000513230.1:p.Lys236Asn
ENST00000697294.1:c.*319G>T	ENSP00000513231.1:n.*319G>T
ENST00000697295.1:c.*17G>T	ENSP00000513232.1:n.*17G>T
ENST00000697296.1:c.*376G>T	ENSP00000513233.1:n.*376G>T
ENST00000697297.1:n.2493G>T
ENST00000697298.1:c.462G>T	ENSP00000513234.1:p.Lys154Asn
ENST00000697299.1:c.462G>T	ENSP00000513235.1:p.Lys154Asn
ENST00000697300.1:c.*312G>T	ENSP00000513236.1:n.*312G>T
ENST00000697301.1:c.*229G>T	ENSP00000513237.1:n.*229G>T
ENST00000697302.1:c.*229G>T	ENSP00000513238.1:n.*229G>T
ENST00000697303.1:c.*312G>T	ENSP00000513239.1:n.*312G>T
ENST00000697304.1:c.585-6045G>T	ENSP00000513240.1:n.585-6045G>T
ENST00000697306.1:c.480+10182G>T	ENSP00000513241.1:n.480+10182G>T
ENST00000697307.1:c.708G>T	ENSP00000513242.1:p.Lys236Asn
ENST00000697308.1:c.708G>T	ENSP00000513243.1:p.Lys236Asn
ENST00000697309.1:c.708G>T	ENSP00000513244.1:p.Lys236Asn
ENST00000697310.1:c.708G>T	ENSP00000513245.1:p.Lys236Asn
ENST00000697311.1:c.708G>T	ENSP00000513246.1:p.Lys236Asn
ENST00000697312.1:c.*106G>T	ENSP00000513247.1:n.*106G>T
ENST00000697313.1:n.2499G>T
ENST00000697314.1:n.2499G>T
ENST00000697315.1:c.708G>T	ENSP00000513248.1:p.Lys236Asn
ENST00000697316.1:n.829G>T
ENST00000697317.1:n.818G>T
ENST00000697318.1:n.820G>T
ENST00000265433.8:c.708G>T MANE Select	ENSP00000265433.4:p.Lys236Asn
ENST00000265433.7:c.708G>T	ENSP00000265433.3:p.Lys236Asn
ENST00000396252.6:c.*581G>T	ENSP00000379551.2:n.*581G>T
ENST00000409330.5:c.462G>T	ENSP00000386924.1:p.Lys154Asn
ENST00000517772.5:c.462G>T	ENSP00000428717.1:p.Lys154Asn
ENST00000519426.5:c.444G>T	ENSP00000430983.1:p.Lys148Asn
NM_001024688.2:c.462G>T	NP_001019859.1:p.Lys154Asn
NM_002485.4:c.708G>T , LRG_158t1:c.708G>T	NP_002476.2:p.Lys236Asn
XM_011517044.1:c.684G>T	XP_011515346.1:p.Lys228Asn
XM_011517045.1:c.462G>T	XP_011515347.1:p.Lys154Asn
XM_011517046.1:c.708G>T	XP_011515348.1:p.Lys236Asn
XR_928335.1:n.845G>T
XM_017013460.1:c.-172G>T	XP_016868949.1:n.-172G>T
XM_017013462.2:c.-172G>T	XP_016868951.1:n.-172G>T
XM_024447163.1:c.462G>T	XP_024302931.1:p.Lys154Asn
XM_024447164.1:c.462G>T	XP_024302932.1:p.Lys154Asn
XM_024447165.1:c.-172G>T	XP_024302933.1:n.-172G>T
NM_002485.5:c.708G>T MANE Select	NP_002476.2:p.Lys236Asn
NM_001024688.3:c.462G>T	NP_001019859.1:p.Lys154Asn