Canonical Allele Identifier: CA371655562

Gene: NBN

Linked Data

• ClinVar Variation Id: 3222411
• ClinVar RCV Id: RCV004513825
• dbSNP Id: rs1455928001
• gnomAD v2: 8-90965743-T-C
• gnomAD v4: 8-89953515-T-C
• MyVariant Identifiers: chr8:g.90965743T>C (hg19) ; chr8:g.89953515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953515T>C , CM000670.2:g.89953515T>C	GRCh38
NC_000008.10:g.90965743T>C , CM000670.1:g.90965743T>C	GRCh37
NC_000008.9:g.91034919T>C	NCBI36
NG_008860.1:g.36157A>G , LRG_158:g.36157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2876A>G
ENST00000517337.2:c.1328A>G	ENSP00000429971.2:p.Asp443Gly
ENST00000523444.2:c.1328A>G	ENSP00000428252.2:p.Asp443Gly
ENST00000697292.1:c.1574A>G	ENSP00000513229.1:p.Asp525Gly
ENST00000697293.1:c.1574A>G	ENSP00000513230.1:p.Asp525Gly
ENST00000697294.1:c.*1185A>G	ENSP00000513231.1:n.*1185A>G
ENST00000697295.1:c.*883A>G	ENSP00000513232.1:n.*883A>G
ENST00000697296.1:c.*1242A>G	ENSP00000513233.1:n.*1242A>G
ENST00000697297.1:n.3359A>G
ENST00000697298.1:c.1328A>G	ENSP00000513234.1:p.Asp443Gly
ENST00000697299.1:c.1328A>G	ENSP00000513235.1:p.Asp443Gly
ENST00000697300.1:c.*1178A>G	ENSP00000513236.1:n.*1178A>G
ENST00000697301.1:c.*1095A>G	ENSP00000513237.1:n.*1095A>G
ENST00000697302.1:c.*1095A>G	ENSP00000513238.1:n.*1095A>G
ENST00000697303.1:c.*1178A>G	ENSP00000513239.1:n.*1178A>G
ENST00000697304.1:c.1262A>G	ENSP00000513240.1:p.Asp421Gly
ENST00000697306.1:c.*574A>G	ENSP00000513241.1:n.*574A>G
ENST00000697307.1:c.1574A>G	ENSP00000513242.1:p.Asp525Gly
ENST00000697308.1:c.1574A>G	ENSP00000513243.1:p.Asp525Gly
ENST00000697309.1:c.1574A>G	ENSP00000513244.1:p.Asp525Gly
ENST00000697310.1:c.1574A>G	ENSP00000513245.1:p.Asp525Gly
ENST00000697311.1:c.1574A>G	ENSP00000513246.1:p.Asp525Gly
ENST00000697312.1:c.*972A>G	ENSP00000513247.1:n.*972A>G
ENST00000697313.1:n.2687+16849A>G
ENST00000697314.1:n.3365A>G
ENST00000697315.1:c.1574A>G	ENSP00000513248.1:p.Asp525Gly
ENST00000697316.1:n.1695A>G
ENST00000697317.1:n.1684A>G
ENST00000697318.1:n.1686A>G
ENST00000265433.8:c.1574A>G MANE Select	ENSP00000265433.4:p.Asp525Gly
ENST00000265433.7:c.1574A>G	ENSP00000265433.3:p.Asp525Gly
ENST00000396252.6:c.*1447A>G	ENSP00000379551.2:n.*1447A>G
ENST00000409330.5:c.1328A>G	ENSP00000386924.1:p.Asp443Gly
NM_001024688.2:c.1328A>G	NP_001019859.1:p.Asp443Gly
NM_002485.4:c.1574A>G , LRG_158t1:c.1574A>G	NP_002476.2:p.Asp525Gly
XM_011517044.1:c.1550A>G	XP_011515346.1:p.Asp517Gly
XM_011517045.1:c.1328A>G	XP_011515347.1:p.Asp443Gly
XR_928335.1:n.1713A>G
XM_017013460.1:c.695A>G	XP_016868949.1:p.Asp232Gly
XM_017013462.2:c.695A>G	XP_016868951.1:p.Asp232Gly
XM_024447163.1:c.1328A>G	XP_024302931.1:p.Asp443Gly
XM_024447164.1:c.1328A>G	XP_024302932.1:p.Asp443Gly
XM_024447165.1:c.695A>G	XP_024302933.1:p.Asp232Gly
NM_002485.5:c.1574A>G MANE Select	NP_002476.2:p.Asp525Gly
NM_001024688.3:c.1328A>G	NP_001019859.1:p.Asp443Gly