Canonical Allele Identifier: CA371655352

Gene: NBN

Linked Data

• ClinVar Variation Id: 461518
• ClinVar RCV Id: RCV000538636 ; RCV000566431
• dbSNP Id: rs876659451
• gnomAD v4: 8-89953417-T-G
• MyVariant Identifiers: chr8:g.90965645T>G (hg19) ; chr8:g.89953417T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953417T>G , CM000670.2:g.89953417T>G	GRCh38
NC_000008.10:g.90965645T>G , CM000670.1:g.90965645T>G	GRCh37
NC_000008.9:g.91034821T>G	NCBI36
NG_008860.1:g.36255A>C , LRG_158:g.36255A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2974A>C
ENST00000517337.2:c.1426A>C	ENSP00000429971.2:p.Ile476Leu
ENST00000523444.2:c.1426A>C	ENSP00000428252.2:p.Ile476Leu
ENST00000697292.1:c.1672A>C	ENSP00000513229.1:p.Ile558Leu
ENST00000697293.1:c.1672A>C	ENSP00000513230.1:p.Ile558Leu
ENST00000697294.1:c.*1283A>C	ENSP00000513231.1:n.*1283A>C
ENST00000697295.1:c.*981A>C	ENSP00000513232.1:n.*981A>C
ENST00000697296.1:c.*1340A>C	ENSP00000513233.1:n.*1340A>C
ENST00000697297.1:n.3457A>C
ENST00000697298.1:c.1426A>C	ENSP00000513234.1:p.Ile476Leu
ENST00000697299.1:c.1426A>C	ENSP00000513235.1:p.Ile476Leu
ENST00000697300.1:c.*1276A>C	ENSP00000513236.1:n.*1276A>C
ENST00000697301.1:c.*1193A>C	ENSP00000513237.1:n.*1193A>C
ENST00000697302.1:c.*1193A>C	ENSP00000513238.1:n.*1193A>C
ENST00000697303.1:c.*1276A>C	ENSP00000513239.1:n.*1276A>C
ENST00000697304.1:c.1360A>C	ENSP00000513240.1:p.Ile454Leu
ENST00000697306.1:c.*672A>C	ENSP00000513241.1:n.*672A>C
ENST00000697307.1:c.1672A>C	ENSP00000513242.1:p.Ile558Leu
ENST00000697308.1:c.1672A>C	ENSP00000513243.1:p.Ile558Leu
ENST00000697309.1:c.1672A>C	ENSP00000513244.1:p.Ile558Leu
ENST00000697310.1:c.1672A>C	ENSP00000513245.1:p.Ile558Leu
ENST00000697311.1:c.1672A>C	ENSP00000513246.1:p.Ile558Leu
ENST00000697312.1:c.*1070A>C	ENSP00000513247.1:n.*1070A>C
ENST00000697313.1:n.2687+16947A>C
ENST00000697314.1:n.3463A>C
ENST00000697315.1:c.1672A>C	ENSP00000513248.1:p.Ile558Leu
ENST00000697316.1:n.1793A>C
ENST00000697317.1:n.1782A>C
ENST00000697318.1:n.1784A>C
ENST00000265433.8:c.1672A>C MANE Select	ENSP00000265433.4:p.Ile558Leu
ENST00000265433.7:c.1672A>C	ENSP00000265433.3:p.Ile558Leu
ENST00000396252.6:c.*1545A>C	ENSP00000379551.2:n.*1545A>C
ENST00000409330.5:c.1426A>C	ENSP00000386924.1:p.Ile476Leu
NM_001024688.2:c.1426A>C	NP_001019859.1:p.Ile476Leu
NM_002485.4:c.1672A>C , LRG_158t1:c.1672A>C	NP_002476.2:p.Ile558Leu
XM_011517044.1:c.1648A>C	XP_011515346.1:p.Ile550Leu
XM_011517045.1:c.1426A>C	XP_011515347.1:p.Ile476Leu
XR_928335.1:n.1811A>C
XM_017013460.1:c.793A>C	XP_016868949.1:p.Ile265Leu
XM_017013462.2:c.793A>C	XP_016868951.1:p.Ile265Leu
XM_024447163.1:c.1426A>C	XP_024302931.1:p.Ile476Leu
XM_024447164.1:c.1426A>C	XP_024302932.1:p.Ile476Leu
XM_024447165.1:c.793A>C	XP_024302933.1:p.Ile265Leu
NM_002485.5:c.1672A>C MANE Select	NP_002476.2:p.Ile558Leu
NM_001024688.3:c.1426A>C	NP_001019859.1:p.Ile476Leu