Canonical Allele Identifier: CA371660375

Gene: NBN

Linked Data

• ClinVar Variation Id: 480049
• ClinVar RCV Id: RCV001800771 ; RCV002476214
• dbSNP Id: rs1554566701
• MyVariant Identifiers: chr8:g.90990517A>G (hg19) ; chr8:g.89978289A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978289A>G , CM000670.2:g.89978289A>G	GRCh38
NC_000008.10:g.90990517A>G , CM000670.1:g.90990517A>G	GRCh37
NC_000008.9:g.91059693A>G	NCBI36
NG_008860.1:g.11383T>C , LRG_158:g.11383T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1817T>C
ENST00000517337.2:c.269T>C	ENSP00000429971.2:p.Val90Ala
ENST00000523444.2:c.269T>C	ENSP00000428252.2:p.Val90Ala
ENST00000697292.1:c.515T>C	ENSP00000513229.1:p.Val172Ala
ENST00000697293.1:c.515T>C	ENSP00000513230.1:p.Val172Ala
ENST00000697294.1:c.*126T>C	ENSP00000513231.1:n.*126T>C
ENST00000697295.1:c.37+6236T>C	ENSP00000513232.1:n.37+6236T>C
ENST00000697296.1:c.*183T>C	ENSP00000513233.1:n.*183T>C
ENST00000697297.1:n.2300T>C
ENST00000697298.1:c.269T>C	ENSP00000513234.1:p.Val90Ala
ENST00000697299.1:c.269T>C	ENSP00000513235.1:p.Val90Ala
ENST00000697300.1:c.*119T>C	ENSP00000513236.1:n.*119T>C
ENST00000697301.1:c.*36T>C	ENSP00000513237.1:n.*36T>C
ENST00000697302.1:c.*36T>C	ENSP00000513238.1:n.*36T>C
ENST00000697303.1:c.*119T>C	ENSP00000513239.1:n.*119T>C
ENST00000697304.1:c.515T>C	ENSP00000513240.1:p.Val172Ala
ENST00000697306.1:c.480+2445T>C	ENSP00000513241.1:n.480+2445T>C
ENST00000697307.1:c.515T>C	ENSP00000513242.1:p.Val172Ala
ENST00000697308.1:c.515T>C	ENSP00000513243.1:p.Val172Ala
ENST00000697309.1:c.515T>C	ENSP00000513244.1:p.Val172Ala
ENST00000697310.1:c.515T>C	ENSP00000513245.1:p.Val172Ala
ENST00000697311.1:c.515T>C	ENSP00000513246.1:p.Val172Ala
ENST00000697312.1:c.480+2445T>C	ENSP00000513247.1:n.480+2445T>C
ENST00000697313.1:n.2306T>C
ENST00000697314.1:n.2306T>C
ENST00000697315.1:c.515T>C	ENSP00000513248.1:p.Val172Ala
ENST00000697316.1:n.636T>C
ENST00000697317.1:n.625T>C
ENST00000697318.1:n.627T>C
ENST00000265433.8:c.515T>C MANE Select	ENSP00000265433.4:p.Val172Ala
ENST00000265433.7:c.515T>C	ENSP00000265433.3:p.Val172Ala
ENST00000396252.6:c.*388T>C	ENSP00000379551.2:n.*388T>C
ENST00000409330.5:c.269T>C	ENSP00000386924.1:p.Val90Ala
ENST00000517337.1:c.269T>C	ENSP00000429971.1:p.Val90Ala
ENST00000517772.5:c.269T>C	ENSP00000428717.1:p.Val90Ala
ENST00000519426.5:c.320+3086T>C	ENSP00000430983.1:n.320+3086T>C
ENST00000523444.1:c.*347T>C	ENSP00000428252.1:n.*347T>C
NM_001024688.2:c.269T>C	NP_001019859.1:p.Val90Ala
NM_002485.4:c.515T>C , LRG_158t1:c.515T>C	NP_002476.2:p.Val172Ala
XM_011517044.1:c.491T>C	XP_011515346.1:p.Val164Ala
XM_011517045.1:c.269T>C	XP_011515347.1:p.Val90Ala
XM_011517046.1:c.515T>C	XP_011515348.1:p.Val172Ala
XR_928335.1:n.652T>C
XM_017013460.1:c.-365T>C	XP_016868949.1:n.-365T>C
XM_017013462.2:c.-296+2445T>C	XP_016868951.1:n.-296+2445T>C
XM_024447163.1:c.269T>C	XP_024302931.1:p.Val90Ala
XM_024447164.1:c.269T>C	XP_024302932.1:p.Val90Ala
XM_024447165.1:c.-365T>C	XP_024302933.1:n.-365T>C
NM_002485.5:c.515T>C MANE Select	NP_002476.2:p.Val172Ala
NM_001024688.3:c.269T>C	NP_001019859.1:p.Val90Ala