Canonical Allele Identifier: CA181276755

Gene: NBN

Linked Data

• ClinVar Variation Id: 568245
• ClinVar RCV Id: RCV000688542 ; RCV001025298
• dbSNP Id: rs769416
• gnomAD v3: 8-89971229-G-T
• gnomAD v4: 8-89971229-G-T
• MyVariant Identifiers: chr8:g.90983457G>T (hg19) ; chr8:g.89971229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971229G>T , CM000670.2:g.89971229G>T	GRCh38
NC_000008.10:g.90983457G>T , CM000670.1:g.90983457G>T	GRCh37
NC_000008.9:g.91052633G>T	NCBI36
NG_008860.1:g.18443C>A , LRG_158:g.18443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1948C>A
ENST00000517337.2:c.400C>A	ENSP00000429971.2:p.Gln134Lys
ENST00000523444.2:c.400C>A	ENSP00000428252.2:p.Gln134Lys
ENST00000697292.1:c.646C>A	ENSP00000513229.1:p.Gln216Lys
ENST00000697293.1:c.646C>A	ENSP00000513230.1:p.Gln216Lys
ENST00000697294.1:c.*257C>A	ENSP00000513231.1:n.*257C>A
ENST00000697295.1:c.99C>A	ENSP00000513232.1:p.Gly33=
ENST00000697296.1:c.*314C>A	ENSP00000513233.1:n.*314C>A
ENST00000697297.1:n.2431C>A
ENST00000697298.1:c.400C>A	ENSP00000513234.1:p.Gln134Lys
ENST00000697299.1:c.400C>A	ENSP00000513235.1:p.Gln134Lys
ENST00000697300.1:c.*250C>A	ENSP00000513236.1:n.*250C>A
ENST00000697301.1:c.*167C>A	ENSP00000513237.1:n.*167C>A
ENST00000697302.1:c.*167C>A	ENSP00000513238.1:n.*167C>A
ENST00000697303.1:c.*250C>A	ENSP00000513239.1:n.*250C>A
ENST00000697304.1:c.585-6722C>A	ENSP00000513240.1:n.585-6722C>A
ENST00000697306.1:c.480+9505C>A	ENSP00000513241.1:n.480+9505C>A
ENST00000697307.1:c.646C>A	ENSP00000513242.1:p.Gln216Lys
ENST00000697308.1:c.646C>A	ENSP00000513243.1:p.Gln216Lys
ENST00000697309.1:c.646C>A	ENSP00000513244.1:p.Gln216Lys
ENST00000697310.1:c.646C>A	ENSP00000513245.1:p.Gln216Lys
ENST00000697311.1:c.646C>A	ENSP00000513246.1:p.Gln216Lys
ENST00000697312.1:c.*44C>A	ENSP00000513247.1:n.*44C>A
ENST00000697313.1:n.2437C>A
ENST00000697314.1:n.2437C>A
ENST00000697315.1:c.646C>A	ENSP00000513248.1:p.Gln216Lys
ENST00000697316.1:n.767C>A
ENST00000697317.1:n.756C>A
ENST00000697318.1:n.758C>A
ENST00000265433.8:c.646C>A MANE Select	ENSP00000265433.4:p.Gln216Lys
ENST00000265433.7:c.646C>A	ENSP00000265433.3:p.Gln216Lys
ENST00000396252.6:c.*519C>A	ENSP00000379551.2:n.*519C>A
ENST00000409330.5:c.400C>A	ENSP00000386924.1:p.Gln134Lys
ENST00000517772.5:c.400C>A	ENSP00000428717.1:p.Gln134Lys
ENST00000519426.5:c.382C>A	ENSP00000430983.1:p.Gln128Lys
NM_001024688.2:c.400C>A	NP_001019859.1:p.Gln134Lys
NM_002485.4:c.646C>A , LRG_158t1:c.646C>A	NP_002476.2:p.Gln216Lys
XM_011517044.1:c.622C>A	XP_011515346.1:p.Gln208Lys
XM_011517045.1:c.400C>A	XP_011515347.1:p.Gln134Lys
XM_011517046.1:c.646C>A	XP_011515348.1:p.Gln216Lys
XR_928335.1:n.783C>A
XM_017013460.1:c.-234C>A	XP_016868949.1:n.-234C>A
XM_017013462.2:c.-234C>A	XP_016868951.1:n.-234C>A
XM_024447163.1:c.400C>A	XP_024302931.1:p.Gln134Lys
XM_024447164.1:c.400C>A	XP_024302932.1:p.Gln134Lys
XM_024447165.1:c.-234C>A	XP_024302933.1:n.-234C>A
NM_002485.5:c.646C>A MANE Select	NP_002476.2:p.Gln216Lys
NM_001024688.3:c.400C>A	NP_001019859.1:p.Gln134Lys