Canonical Allele Identifier: CA461831412

Gene: NBN

Linked Data

• ClinVar Variation Id: 629146
• ClinVar RCV Id: RCV001416654
• dbSNP Id: rs1563579495
• MyVariant Identifiers: chr8:g.90993100A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980872A>C , CM000670.2:g.89980872A>C	GRCh38
NC_000008.10:g.90993100A>C , CM000670.1:g.90993100A>C	GRCh37
NC_000008.9:g.91062276A>C	NCBI36
NG_008860.1:g.8800T>G , LRG_158:g.8800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1644T>G
ENST00000517337.2:c.96T>G	ENSP00000429971.2:p.Val32=
ENST00000523444.2:c.96T>G	ENSP00000428252.2:p.Val32=
ENST00000697292.1:c.342T>G	ENSP00000513229.1:p.Val114=
ENST00000697293.1:c.342T>G	ENSP00000513230.1:p.Val114=
ENST00000697294.1:c.321-20T>G	ENSP00000513231.1:n.321-20T>G
ENST00000697295.1:c.37+3653T>G	ENSP00000513232.1:n.37+3653T>G
ENST00000697296.1:c.*10T>G	ENSP00000513233.1:n.*10T>G
ENST00000697297.1:n.2127T>G
ENST00000697298.1:c.96T>G	ENSP00000513234.1:p.Val32=
ENST00000697299.1:c.96T>G	ENSP00000513235.1:p.Val32=
ENST00000697300.1:c.96T>G	ENSP00000513236.1:p.Val32=
ENST00000697301.1:c.75-20T>G	ENSP00000513237.1:n.75-20T>G
ENST00000697302.1:c.321-20T>G	ENSP00000513238.1:n.321-20T>G
ENST00000697303.1:c.342T>G	ENSP00000513239.1:p.Val114=
ENST00000697304.1:c.342T>G	ENSP00000513240.1:p.Val114=
ENST00000697306.1:c.342T>G	ENSP00000513241.1:p.Val114=
ENST00000697307.1:c.342T>G	ENSP00000513242.1:p.Val114=
ENST00000697308.1:c.342T>G	ENSP00000513243.1:p.Val114=
ENST00000697309.1:c.342T>G	ENSP00000513244.1:p.Val114=
ENST00000697310.1:c.342T>G	ENSP00000513245.1:p.Val114=
ENST00000697311.1:c.342T>G	ENSP00000513246.1:p.Val114=
ENST00000697312.1:c.342T>G	ENSP00000513247.1:p.Val114=
ENST00000697313.1:n.2133T>G
ENST00000697314.1:n.2133T>G
ENST00000697315.1:c.342T>G	ENSP00000513248.1:p.Val114=
ENST00000697316.1:n.463T>G
ENST00000697317.1:n.452T>G
ENST00000697318.1:n.454T>G
ENST00000265433.8:c.342T>G MANE Select	ENSP00000265433.4:p.Val114=
ENST00000265433.7:c.342T>G	ENSP00000265433.3:p.Val114=
ENST00000396252.6:c.*215T>G	ENSP00000379551.2:n.*215T>G
ENST00000409330.5:c.96T>G	ENSP00000386924.1:p.Val32=
ENST00000517337.1:c.96T>G	ENSP00000429971.1:p.Val32=
ENST00000517772.5:c.96T>G	ENSP00000428717.1:p.Val32=
ENST00000519426.5:c.320+503T>G	ENSP00000430983.1:n.320+503T>G
ENST00000523444.1:c.*194-20T>G	ENSP00000428252.1:n.*194-20T>G
NM_001024688.2:c.96T>G	NP_001019859.1:p.Val32=
NM_002485.4:c.342T>G , LRG_158t1:c.342T>G	NP_002476.2:p.Val114=
XM_011517044.1:c.318T>G	XP_011515346.1:p.Val106=
XM_011517045.1:c.96T>G	XP_011515347.1:p.Val32=
XM_011517046.1:c.342T>G	XP_011515348.1:p.Val114=
XR_928335.1:n.479T>G
XM_017013460.1:c.-628T>G	XP_016868949.1:n.-628T>G
XM_017013462.2:c.-434T>G	XP_016868951.1:n.-434T>G
XM_024447163.1:c.96T>G	XP_024302931.1:p.Val32=
XM_024447164.1:c.96T>G	XP_024302932.1:p.Val32=
XM_024447165.1:c.-628T>G	XP_024302933.1:n.-628T>G
NM_002485.5:c.342T>G MANE Select	NP_002476.2:p.Val114=
NM_001024688.3:c.96T>G	NP_001019859.1:p.Val32=