Canonical Allele Identifier: CA462114779

Gene: NBN

Linked Data

• ClinVar Variation Id: 1624584
• ClinVar RCV Id: RCV002106206
• dbSNP Id: rs2129703123
• MyVariant Identifiers: chr8:g.90965853A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953625A>G , CM000670.2:g.89953625A>G	GRCh38
NC_000008.10:g.90965853A>G , CM000670.1:g.90965853A>G	GRCh37
NC_000008.9:g.91035029A>G	NCBI36
NG_008860.1:g.36047T>C , LRG_158:g.36047T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2766T>C
ENST00000517337.2:c.1218T>C	ENSP00000429971.2:p.Ser406=
ENST00000523444.2:c.1218T>C	ENSP00000428252.2:p.Ser406=
ENST00000697292.1:c.1464T>C	ENSP00000513229.1:p.Ser488=
ENST00000697293.1:c.1464T>C	ENSP00000513230.1:p.Ser488=
ENST00000697294.1:c.*1075T>C	ENSP00000513231.1:n.*1075T>C
ENST00000697295.1:c.*773T>C	ENSP00000513232.1:n.*773T>C
ENST00000697296.1:c.*1132T>C	ENSP00000513233.1:n.*1132T>C
ENST00000697297.1:n.3249T>C
ENST00000697298.1:c.1218T>C	ENSP00000513234.1:p.Ser406=
ENST00000697299.1:c.1218T>C	ENSP00000513235.1:p.Ser406=
ENST00000697300.1:c.*1068T>C	ENSP00000513236.1:n.*1068T>C
ENST00000697301.1:c.*985T>C	ENSP00000513237.1:n.*985T>C
ENST00000697302.1:c.*985T>C	ENSP00000513238.1:n.*985T>C
ENST00000697303.1:c.*1068T>C	ENSP00000513239.1:n.*1068T>C
ENST00000697304.1:c.1152T>C	ENSP00000513240.1:p.Ser384=
ENST00000697306.1:c.*464T>C	ENSP00000513241.1:n.*464T>C
ENST00000697307.1:c.1464T>C	ENSP00000513242.1:p.Ser488=
ENST00000697308.1:c.1464T>C	ENSP00000513243.1:p.Ser488=
ENST00000697309.1:c.1464T>C	ENSP00000513244.1:p.Ser488=
ENST00000697310.1:c.1464T>C	ENSP00000513245.1:p.Ser488=
ENST00000697311.1:c.1464T>C	ENSP00000513246.1:p.Ser488=
ENST00000697312.1:c.*862T>C	ENSP00000513247.1:n.*862T>C
ENST00000697313.1:n.2687+16739T>C
ENST00000697314.1:n.3255T>C
ENST00000697315.1:c.1464T>C	ENSP00000513248.1:p.Ser488=
ENST00000697316.1:n.1585T>C
ENST00000697317.1:n.1574T>C
ENST00000697318.1:n.1576T>C
ENST00000265433.8:c.1464T>C MANE Select	ENSP00000265433.4:p.Ser488=
ENST00000265433.7:c.1464T>C	ENSP00000265433.3:p.Ser488=
ENST00000396252.6:c.*1337T>C	ENSP00000379551.2:n.*1337T>C
ENST00000409330.5:c.1218T>C	ENSP00000386924.1:p.Ser406=
NM_001024688.2:c.1218T>C	NP_001019859.1:p.Ser406=
NM_002485.4:c.1464T>C , LRG_158t1:c.1464T>C	NP_002476.2:p.Ser488=
XM_011517044.1:c.1440T>C	XP_011515346.1:p.Ser480=
XM_011517045.1:c.1218T>C	XP_011515347.1:p.Ser406=
XR_928335.1:n.1603T>C
XM_017013460.1:c.585T>C	XP_016868949.1:p.Ser195=
XM_017013462.2:c.585T>C	XP_016868951.1:p.Ser195=
XM_024447163.1:c.1218T>C	XP_024302931.1:p.Ser406=
XM_024447164.1:c.1218T>C	XP_024302932.1:p.Ser406=
XM_024447165.1:c.585T>C	XP_024302933.1:p.Ser195=
NM_002485.5:c.1464T>C MANE Select	NP_002476.2:p.Ser488=
NM_001024688.3:c.1218T>C	NP_001019859.1:p.Ser406=