Canonical Allele Identifier: CA371655323

Gene: NBN

Linked Data

• gnomAD v4: 8-89953405-C-G
• MyVariant Identifiers: chr8:g.90965633C>G (hg19) ; chr8:g.89953405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953405C>G , CM000670.2:g.89953405C>G	GRCh38
NC_000008.10:g.90965633C>G , CM000670.1:g.90965633C>G	GRCh37
NC_000008.9:g.91034809C>G	NCBI36
NG_008860.1:g.36267G>C , LRG_158:g.36267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2986G>C
ENST00000517337.2:c.1438G>C	ENSP00000429971.2:p.Val480Leu
ENST00000523444.2:c.1438G>C	ENSP00000428252.2:p.Val480Leu
ENST00000697292.1:c.1684G>C	ENSP00000513229.1:p.Val562Leu
ENST00000697293.1:c.1684G>C	ENSP00000513230.1:p.Val562Leu
ENST00000697294.1:c.*1295G>C	ENSP00000513231.1:n.*1295G>C
ENST00000697295.1:c.*993G>C	ENSP00000513232.1:n.*993G>C
ENST00000697296.1:c.*1352G>C	ENSP00000513233.1:n.*1352G>C
ENST00000697297.1:n.3469G>C
ENST00000697298.1:c.1438G>C	ENSP00000513234.1:p.Val480Leu
ENST00000697299.1:c.1438G>C	ENSP00000513235.1:p.Val480Leu
ENST00000697300.1:c.*1288G>C	ENSP00000513236.1:n.*1288G>C
ENST00000697301.1:c.*1205G>C	ENSP00000513237.1:n.*1205G>C
ENST00000697302.1:c.*1205G>C	ENSP00000513238.1:n.*1205G>C
ENST00000697303.1:c.*1288G>C	ENSP00000513239.1:n.*1288G>C
ENST00000697304.1:c.1372G>C	ENSP00000513240.1:p.Val458Leu
ENST00000697306.1:c.*684G>C	ENSP00000513241.1:n.*684G>C
ENST00000697307.1:c.1684G>C	ENSP00000513242.1:p.Val562Leu
ENST00000697308.1:c.1684G>C	ENSP00000513243.1:p.Val562Leu
ENST00000697309.1:c.1684G>C	ENSP00000513244.1:p.Val562Leu
ENST00000697310.1:c.1684G>C	ENSP00000513245.1:p.Val562Leu
ENST00000697311.1:c.1684G>C	ENSP00000513246.1:p.Val562Leu
ENST00000697312.1:c.*1082G>C	ENSP00000513247.1:n.*1082G>C
ENST00000697313.1:n.2687+16959G>C
ENST00000697314.1:n.3475G>C
ENST00000697315.1:c.1684G>C	ENSP00000513248.1:p.Val562Leu
ENST00000697316.1:n.1805G>C
ENST00000697317.1:n.1794G>C
ENST00000697318.1:n.1796G>C
ENST00000265433.8:c.1684G>C MANE Select	ENSP00000265433.4:p.Val562Leu
ENST00000265433.7:c.1684G>C	ENSP00000265433.3:p.Val562Leu
ENST00000396252.6:c.*1557G>C	ENSP00000379551.2:n.*1557G>C
ENST00000409330.5:c.1438G>C	ENSP00000386924.1:p.Val480Leu
NM_001024688.2:c.1438G>C	NP_001019859.1:p.Val480Leu
NM_002485.4:c.1684G>C , LRG_158t1:c.1684G>C	NP_002476.2:p.Val562Leu
XM_011517044.1:c.1660G>C	XP_011515346.1:p.Val554Leu
XM_011517045.1:c.1438G>C	XP_011515347.1:p.Val480Leu
XR_928335.1:n.1823G>C
XM_017013460.1:c.805G>C	XP_016868949.1:p.Val269Leu
XM_017013462.2:c.805G>C	XP_016868951.1:p.Val269Leu
XM_024447163.1:c.1438G>C	XP_024302931.1:p.Val480Leu
XM_024447164.1:c.1438G>C	XP_024302932.1:p.Val480Leu
XM_024447165.1:c.805G>C	XP_024302933.1:p.Val269Leu
NM_002485.5:c.1684G>C MANE Select	NP_002476.2:p.Val562Leu
NM_001024688.3:c.1438G>C	NP_001019859.1:p.Val480Leu