Canonical Allele Identifier: CA4802687

Gene: NBN

Linked Data

• ClinVar Variation Id: 530730
• ClinVar RCV Id: RCV000636724 ; RCV002404777
• dbSNP Id: rs749918573
• ExAC: 8:90965603 G / A
• gnomAD v2: 8-90965603-G-A
• gnomAD v4: 8-89953375-G-A
• COSMIC: COSM5875088
• MyVariant Identifiers: chr8:g.90965603G>A (hg19) ; chr8:g.89953375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953375G>A , CM000670.2:g.89953375G>A	GRCh38
NC_000008.10:g.90965603G>A , CM000670.1:g.90965603G>A	GRCh37
NC_000008.9:g.91034779G>A	NCBI36
NG_008860.1:g.36297C>T , LRG_158:g.36297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3016C>T
ENST00000517337.2:c.1468C>T	ENSP00000429971.2:p.Pro490Ser
ENST00000523444.2:c.1468C>T	ENSP00000428252.2:p.Pro490Ser
ENST00000697292.1:c.1714C>T	ENSP00000513229.1:p.Pro572Ser
ENST00000697293.1:c.1714C>T	ENSP00000513230.1:p.Pro572Ser
ENST00000697294.1:c.*1325C>T	ENSP00000513231.1:n.*1325C>T
ENST00000697295.1:c.*1023C>T	ENSP00000513232.1:n.*1023C>T
ENST00000697296.1:c.*1382C>T	ENSP00000513233.1:n.*1382C>T
ENST00000697297.1:n.3499C>T
ENST00000697298.1:c.1468C>T	ENSP00000513234.1:p.Pro490Ser
ENST00000697299.1:c.1468C>T	ENSP00000513235.1:p.Pro490Ser
ENST00000697300.1:c.*1318C>T	ENSP00000513236.1:n.*1318C>T
ENST00000697301.1:c.*1235C>T	ENSP00000513237.1:n.*1235C>T
ENST00000697302.1:c.*1235C>T	ENSP00000513238.1:n.*1235C>T
ENST00000697303.1:c.*1318C>T	ENSP00000513239.1:n.*1318C>T
ENST00000697304.1:c.1402C>T	ENSP00000513240.1:p.Pro468Ser
ENST00000697306.1:c.*714C>T	ENSP00000513241.1:n.*714C>T
ENST00000697307.1:c.1714C>T	ENSP00000513242.1:p.Pro572Ser
ENST00000697308.1:c.1714C>T	ENSP00000513243.1:p.Pro572Ser
ENST00000697309.1:c.1714C>T	ENSP00000513244.1:p.Pro572Ser
ENST00000697310.1:c.1714C>T	ENSP00000513245.1:p.Pro572Ser
ENST00000697311.1:c.1714C>T	ENSP00000513246.1:p.Pro572Ser
ENST00000697312.1:c.*1112C>T	ENSP00000513247.1:n.*1112C>T
ENST00000697313.1:n.2687+16989C>T
ENST00000697314.1:n.3505C>T
ENST00000697315.1:c.1714C>T	ENSP00000513248.1:p.Pro572Ser
ENST00000697316.1:n.1835C>T
ENST00000697317.1:n.1824C>T
ENST00000697318.1:n.1826C>T
ENST00000265433.8:c.1714C>T MANE Select	ENSP00000265433.4:p.Pro572Ser
ENST00000265433.7:c.1714C>T	ENSP00000265433.3:p.Pro572Ser
ENST00000396252.6:c.*1587C>T	ENSP00000379551.2:n.*1587C>T
ENST00000409330.5:c.1468C>T	ENSP00000386924.1:p.Pro490Ser
NM_001024688.2:c.1468C>T	NP_001019859.1:p.Pro490Ser
NM_002485.4:c.1714C>T , LRG_158t1:c.1714C>T	NP_002476.2:p.Pro572Ser
XM_011517044.1:c.1690C>T	XP_011515346.1:p.Pro564Ser
XM_011517045.1:c.1468C>T	XP_011515347.1:p.Pro490Ser
XR_928335.1:n.1853C>T
XM_017013460.1:c.835C>T	XP_016868949.1:p.Pro279Ser
XM_017013462.2:c.835C>T	XP_016868951.1:p.Pro279Ser
XM_024447163.1:c.1468C>T	XP_024302931.1:p.Pro490Ser
XM_024447164.1:c.1468C>T	XP_024302932.1:p.Pro490Ser
XM_024447165.1:c.835C>T	XP_024302933.1:p.Pro279Ser
NM_002485.5:c.1714C>T MANE Select	NP_002476.2:p.Pro572Ser
NM_001024688.3:c.1468C>T	NP_001019859.1:p.Pro490Ser