Canonical Allele Identifier: CA230729

Gene: NBN

Linked Data

• ClinVar Variation Id: 127009
• ClinVar RCV Id: RCV000114875 ; RCV000115780 ; RCV000123203 ; RCV000212745 ; RCV000757930 ; RCV001358304 ; RCV000515275
• dbSNP Id: rs104895032
• ExAC: 8:90967646 A / G
• gnomAD v2: 8-90967646-A-G
• gnomAD v3: 8-89955418-A-G
• gnomAD v4: 8-89955418-A-G
• MyVariant Identifiers: chr8:g.90967646A>G (hg19) ; chr8:g.89955418A>G (hg38)
• PubMed: PMID:20805886 ; PMID:23555315 ; PMID:25980754 ; PMID:26315354 ; PMID:28135145

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955418A>G , CM000670.2:g.89955418A>G	GRCh38
NC_000008.10:g.90967646A>G , CM000670.1:g.90967646A>G	GRCh37
NC_000008.9:g.91036822A>G	NCBI36
NG_008860.1:g.34254T>C , LRG_158:g.34254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2564T>C
ENST00000517337.2:c.1016T>C	ENSP00000429971.2:p.Leu339Ser
ENST00000523444.2:c.1016T>C	ENSP00000428252.2:p.Leu339Ser
ENST00000697292.1:c.1262T>C	ENSP00000513229.1:p.Leu421Ser
ENST00000697293.1:c.1262T>C	ENSP00000513230.1:p.Leu421Ser
ENST00000697294.1:c.*873T>C	ENSP00000513231.1:n.*873T>C
ENST00000697295.1:c.*571T>C	ENSP00000513232.1:n.*571T>C
ENST00000697296.1:c.*930T>C	ENSP00000513233.1:n.*930T>C
ENST00000697297.1:n.3047T>C
ENST00000697298.1:c.1016T>C	ENSP00000513234.1:p.Leu339Ser
ENST00000697299.1:c.1016T>C	ENSP00000513235.1:p.Leu339Ser
ENST00000697300.1:c.*866T>C	ENSP00000513236.1:n.*866T>C
ENST00000697301.1:c.*783T>C	ENSP00000513237.1:n.*783T>C
ENST00000697302.1:c.*783T>C	ENSP00000513238.1:n.*783T>C
ENST00000697303.1:c.*866T>C	ENSP00000513239.1:n.*866T>C
ENST00000697304.1:c.950T>C	ENSP00000513240.1:p.Leu317Ser
ENST00000697306.1:c.*262T>C	ENSP00000513241.1:n.*262T>C
ENST00000697307.1:c.1262T>C	ENSP00000513242.1:p.Leu421Ser
ENST00000697308.1:c.1262T>C	ENSP00000513243.1:p.Leu421Ser
ENST00000697309.1:c.1262T>C	ENSP00000513244.1:p.Leu421Ser
ENST00000697310.1:c.1262T>C	ENSP00000513245.1:p.Leu421Ser
ENST00000697311.1:c.1262T>C	ENSP00000513246.1:p.Leu421Ser
ENST00000697312.1:c.*660T>C	ENSP00000513247.1:n.*660T>C
ENST00000697313.1:n.2687+14946T>C
ENST00000697314.1:n.3053T>C
ENST00000697315.1:c.1262T>C	ENSP00000513248.1:p.Leu421Ser
ENST00000697316.1:n.1383T>C
ENST00000697317.1:n.1372T>C
ENST00000697318.1:n.1374T>C
ENST00000265433.8:c.1262T>C MANE Select	ENSP00000265433.4:p.Leu421Ser
ENST00000265433.7:c.1262T>C	ENSP00000265433.3:p.Leu421Ser
ENST00000396252.6:c.*1135T>C	ENSP00000379551.2:n.*1135T>C
ENST00000409330.5:c.1016T>C	ENSP00000386924.1:p.Leu339Ser
NM_001024688.2:c.1016T>C	NP_001019859.1:p.Leu339Ser
NM_002485.4:c.1262T>C , LRG_158t1:c.1262T>C	NP_002476.2:p.Leu421Ser
XM_011517044.1:c.1238T>C	XP_011515346.1:p.Leu413Ser
XM_011517045.1:c.1016T>C	XP_011515347.1:p.Leu339Ser
XM_011517046.1:c.1262T>C	XP_011515348.1:p.Leu421Ser
XR_928335.1:n.1399T>C
XM_017013460.1:c.383T>C	XP_016868949.1:p.Leu128Ser
XM_017013462.2:c.383T>C	XP_016868951.1:p.Leu128Ser
XM_024447163.1:c.1016T>C	XP_024302931.1:p.Leu339Ser
XM_024447164.1:c.1016T>C	XP_024302932.1:p.Leu339Ser
XM_024447165.1:c.383T>C	XP_024302933.1:p.Leu128Ser
NM_002485.5:c.1262T>C MANE Select	NP_002476.2:p.Leu421Ser
NM_001024688.3:c.1016T>C	NP_001019859.1:p.Leu339Ser