Canonical Allele Identifier: CA462114730

Gene: NBN

Linked Data

• ClinVar Variation Id: 2890940
• ClinVar RCV Id: RCV003618823
• dbSNP Id: rs1244143643
• gnomAD v2: 8-90965790-A-G
• gnomAD v4: 8-89953562-A-G
• MyVariant Identifiers: chr8:g.90965790A>G (hg19) ; chr8:g.89953562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953562A>G , CM000670.2:g.89953562A>G	GRCh38
NC_000008.10:g.90965790A>G , CM000670.1:g.90965790A>G	GRCh37
NC_000008.9:g.91034966A>G	NCBI36
NG_008860.1:g.36110T>C , LRG_158:g.36110T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2829T>C
ENST00000517337.2:c.1281T>C	ENSP00000429971.2:p.Ser427=
ENST00000523444.2:c.1281T>C	ENSP00000428252.2:p.Ser427=
ENST00000697292.1:c.1527T>C	ENSP00000513229.1:p.Ser509=
ENST00000697293.1:c.1527T>C	ENSP00000513230.1:p.Ser509=
ENST00000697294.1:c.*1138T>C	ENSP00000513231.1:n.*1138T>C
ENST00000697295.1:c.*836T>C	ENSP00000513232.1:n.*836T>C
ENST00000697296.1:c.*1195T>C	ENSP00000513233.1:n.*1195T>C
ENST00000697297.1:n.3312T>C
ENST00000697298.1:c.1281T>C	ENSP00000513234.1:p.Ser427=
ENST00000697299.1:c.1281T>C	ENSP00000513235.1:p.Ser427=
ENST00000697300.1:c.*1131T>C	ENSP00000513236.1:n.*1131T>C
ENST00000697301.1:c.*1048T>C	ENSP00000513237.1:n.*1048T>C
ENST00000697302.1:c.*1048T>C	ENSP00000513238.1:n.*1048T>C
ENST00000697303.1:c.*1131T>C	ENSP00000513239.1:n.*1131T>C
ENST00000697304.1:c.1215T>C	ENSP00000513240.1:p.Ser405=
ENST00000697306.1:c.*527T>C	ENSP00000513241.1:n.*527T>C
ENST00000697307.1:c.1527T>C	ENSP00000513242.1:p.Ser509=
ENST00000697308.1:c.1527T>C	ENSP00000513243.1:p.Ser509=
ENST00000697309.1:c.1527T>C	ENSP00000513244.1:p.Ser509=
ENST00000697310.1:c.1527T>C	ENSP00000513245.1:p.Ser509=
ENST00000697311.1:c.1527T>C	ENSP00000513246.1:p.Ser509=
ENST00000697312.1:c.*925T>C	ENSP00000513247.1:n.*925T>C
ENST00000697313.1:n.2687+16802T>C
ENST00000697314.1:n.3318T>C
ENST00000697315.1:c.1527T>C	ENSP00000513248.1:p.Ser509=
ENST00000697316.1:n.1648T>C
ENST00000697317.1:n.1637T>C
ENST00000697318.1:n.1639T>C
ENST00000265433.8:c.1527T>C MANE Select	ENSP00000265433.4:p.Ser509=
ENST00000265433.7:c.1527T>C	ENSP00000265433.3:p.Ser509=
ENST00000396252.6:c.*1400T>C	ENSP00000379551.2:n.*1400T>C
ENST00000409330.5:c.1281T>C	ENSP00000386924.1:p.Ser427=
NM_001024688.2:c.1281T>C	NP_001019859.1:p.Ser427=
NM_002485.4:c.1527T>C , LRG_158t1:c.1527T>C	NP_002476.2:p.Ser509=
XM_011517044.1:c.1503T>C	XP_011515346.1:p.Ser501=
XM_011517045.1:c.1281T>C	XP_011515347.1:p.Ser427=
XR_928335.1:n.1666T>C
XM_017013460.1:c.648T>C	XP_016868949.1:p.Ser216=
XM_017013462.2:c.648T>C	XP_016868951.1:p.Ser216=
XM_024447163.1:c.1281T>C	XP_024302931.1:p.Ser427=
XM_024447164.1:c.1281T>C	XP_024302932.1:p.Ser427=
XM_024447165.1:c.648T>C	XP_024302933.1:p.Ser216=
NM_002485.5:c.1527T>C MANE Select	NP_002476.2:p.Ser509=
NM_001024688.3:c.1281T>C	NP_001019859.1:p.Ser427=