Canonical Allele Identifier: CA462114595

Gene: NBN

Linked Data

• ClinVar Variation Id: 754134
• ClinVar RCV Id: RCV001430601
• dbSNP Id: rs1586053267
• MyVariant Identifiers: chr8:g.90965601T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953373T>G , CM000670.2:g.89953373T>G	GRCh38
NC_000008.10:g.90965601T>G , CM000670.1:g.90965601T>G	GRCh37
NC_000008.9:g.91034777T>G	NCBI36
NG_008860.1:g.36299A>C , LRG_158:g.36299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3018A>C
ENST00000517337.2:c.1470A>C	ENSP00000429971.2:p.Pro490=
ENST00000523444.2:c.1470A>C	ENSP00000428252.2:p.Pro490=
ENST00000697292.1:c.1716A>C	ENSP00000513229.1:p.Pro572=
ENST00000697293.1:c.1716A>C	ENSP00000513230.1:p.Pro572=
ENST00000697294.1:c.*1327A>C	ENSP00000513231.1:n.*1327A>C
ENST00000697295.1:c.*1025A>C	ENSP00000513232.1:n.*1025A>C
ENST00000697296.1:c.*1384A>C	ENSP00000513233.1:n.*1384A>C
ENST00000697297.1:n.3501A>C
ENST00000697298.1:c.1470A>C	ENSP00000513234.1:p.Pro490=
ENST00000697299.1:c.1470A>C	ENSP00000513235.1:p.Pro490=
ENST00000697300.1:c.*1320A>C	ENSP00000513236.1:n.*1320A>C
ENST00000697301.1:c.*1237A>C	ENSP00000513237.1:n.*1237A>C
ENST00000697302.1:c.*1237A>C	ENSP00000513238.1:n.*1237A>C
ENST00000697303.1:c.*1320A>C	ENSP00000513239.1:n.*1320A>C
ENST00000697304.1:c.1404A>C	ENSP00000513240.1:p.Pro468=
ENST00000697306.1:c.*716A>C	ENSP00000513241.1:n.*716A>C
ENST00000697307.1:c.1716A>C	ENSP00000513242.1:p.Pro572=
ENST00000697308.1:c.1716A>C	ENSP00000513243.1:p.Pro572=
ENST00000697309.1:c.1716A>C	ENSP00000513244.1:p.Pro572=
ENST00000697310.1:c.1716A>C	ENSP00000513245.1:p.Pro572=
ENST00000697311.1:c.1716A>C	ENSP00000513246.1:p.Pro572=
ENST00000697312.1:c.*1114A>C	ENSP00000513247.1:n.*1114A>C
ENST00000697313.1:n.2687+16991A>C
ENST00000697314.1:n.3507A>C
ENST00000697315.1:c.1716A>C	ENSP00000513248.1:p.Pro572=
ENST00000697316.1:n.1837A>C
ENST00000697317.1:n.1826A>C
ENST00000697318.1:n.1828A>C
ENST00000265433.8:c.1716A>C MANE Select	ENSP00000265433.4:p.Pro572=
ENST00000265433.7:c.1716A>C	ENSP00000265433.3:p.Pro572=
ENST00000396252.6:c.*1589A>C	ENSP00000379551.2:n.*1589A>C
ENST00000409330.5:c.1470A>C	ENSP00000386924.1:p.Pro490=
NM_001024688.2:c.1470A>C	NP_001019859.1:p.Pro490=
NM_002485.4:c.1716A>C , LRG_158t1:c.1716A>C	NP_002476.2:p.Pro572=
XM_011517044.1:c.1692A>C	XP_011515346.1:p.Pro564=
XM_011517045.1:c.1470A>C	XP_011515347.1:p.Pro490=
XR_928335.1:n.1855A>C
XM_017013460.1:c.837A>C	XP_016868949.1:p.Pro279=
XM_017013462.2:c.837A>C	XP_016868951.1:p.Pro279=
XM_024447163.1:c.1470A>C	XP_024302931.1:p.Pro490=
XM_024447164.1:c.1470A>C	XP_024302932.1:p.Pro490=
XM_024447165.1:c.837A>C	XP_024302933.1:p.Pro279=
NM_002485.5:c.1716A>C MANE Select	NP_002476.2:p.Pro572=
NM_001024688.3:c.1470A>C	NP_001019859.1:p.Pro490=