Canonical Allele Identifier: CA16612369

Gene: NBN

Linked Data

• ClinVar Variation Id: 411768
• ClinVar RCV Id: RCV000475235 ; RCV003168857
• dbSNP Id: rs1060503475
• gnomAD v4: 8-89970393-C-A
• MyVariant Identifiers: chr8:g.90982621C>A (hg19) ; chr8:g.89970393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970393C>A , CM000670.2:g.89970393C>A	GRCh38
NC_000008.10:g.90982621C>A , CM000670.1:g.90982621C>A	GRCh37
NC_000008.9:g.91051797C>A	NCBI36
NG_008860.1:g.19279G>T , LRG_158:g.19279G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2169G>T
ENST00000517337.2:c.621G>T	ENSP00000429971.2:p.Trp207Cys
ENST00000523444.2:c.621G>T	ENSP00000428252.2:p.Trp207Cys
ENST00000697292.1:c.867G>T	ENSP00000513229.1:p.Trp289Cys
ENST00000697293.1:c.867G>T	ENSP00000513230.1:p.Trp289Cys
ENST00000697294.1:c.*478G>T	ENSP00000513231.1:n.*478G>T
ENST00000697295.1:c.*176G>T	ENSP00000513232.1:n.*176G>T
ENST00000697296.1:c.*535G>T	ENSP00000513233.1:n.*535G>T
ENST00000697297.1:n.2652G>T
ENST00000697298.1:c.621G>T	ENSP00000513234.1:p.Trp207Cys
ENST00000697299.1:c.621G>T	ENSP00000513235.1:p.Trp207Cys
ENST00000697300.1:c.*471G>T	ENSP00000513236.1:n.*471G>T
ENST00000697301.1:c.*388G>T	ENSP00000513237.1:n.*388G>T
ENST00000697302.1:c.*388G>T	ENSP00000513238.1:n.*388G>T
ENST00000697303.1:c.*471G>T	ENSP00000513239.1:n.*471G>T
ENST00000697304.1:c.585-5886G>T	ENSP00000513240.1:n.585-5886G>T
ENST00000697306.1:c.480+10341G>T	ENSP00000513241.1:n.480+10341G>T
ENST00000697307.1:c.867G>T	ENSP00000513242.1:p.Trp289Cys
ENST00000697308.1:c.867G>T	ENSP00000513243.1:p.Trp289Cys
ENST00000697309.1:c.867G>T	ENSP00000513244.1:p.Trp289Cys
ENST00000697310.1:c.867G>T	ENSP00000513245.1:p.Trp289Cys
ENST00000697311.1:c.867G>T	ENSP00000513246.1:p.Trp289Cys
ENST00000697312.1:c.*265G>T	ENSP00000513247.1:n.*265G>T
ENST00000697313.1:n.2658G>T
ENST00000697314.1:n.2658G>T
ENST00000697315.1:c.867G>T	ENSP00000513248.1:p.Trp289Cys
ENST00000697316.1:n.988G>T
ENST00000697317.1:n.977G>T
ENST00000697318.1:n.979G>T
ENST00000265433.8:c.867G>T MANE Select	ENSP00000265433.4:p.Trp289Cys
ENST00000265433.7:c.867G>T	ENSP00000265433.3:p.Trp289Cys
ENST00000396252.6:c.*740G>T	ENSP00000379551.2:n.*740G>T
ENST00000409330.5:c.621G>T	ENSP00000386924.1:p.Trp207Cys
NM_001024688.2:c.621G>T	NP_001019859.1:p.Trp207Cys
NM_002485.4:c.867G>T , LRG_158t1:c.867G>T	NP_002476.2:p.Trp289Cys
XM_011517044.1:c.843G>T	XP_011515346.1:p.Trp281Cys
XM_011517045.1:c.621G>T	XP_011515347.1:p.Trp207Cys
XM_011517046.1:c.867G>T	XP_011515348.1:p.Trp289Cys
XR_928335.1:n.1004G>T
XM_017013460.1:c.-13G>T	XP_016868949.1:n.-13G>T
XM_017013462.2:c.-13G>T	XP_016868951.1:n.-13G>T
XM_024447163.1:c.621G>T	XP_024302931.1:p.Trp207Cys
XM_024447164.1:c.621G>T	XP_024302932.1:p.Trp207Cys
XM_024447165.1:c.-13G>T	XP_024302933.1:n.-13G>T
NM_002485.5:c.867G>T MANE Select	NP_002476.2:p.Trp289Cys
NM_001024688.3:c.621G>T	NP_001019859.1:p.Trp207Cys