Canonical Allele Identifier: CA371656555

Gene: NBN

Linked Data

• ClinVar Variation Id: 483970
• ClinVar RCV Id: RCV001853723
• dbSNP Id: rs1057517209
• gnomAD v4: 8-89958724-C-G
• MyVariant Identifiers: chr8:g.90970952C>G (hg19) ; chr8:g.89958724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89958724C>G , CM000670.2:g.89958724C>G	GRCh38
NC_000008.10:g.90970952C>G , CM000670.1:g.90970952C>G	GRCh37
NC_000008.9:g.91040128C>G	NCBI36
NG_008860.1:g.30948G>C , LRG_158:g.30948G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2426+1G>C
ENST00000517337.2:c.878+1G>C	ENSP00000429971.2:n.878+1G>C
ENST00000523444.2:c.878+1G>C	ENSP00000428252.2:n.878+1G>C
ENST00000697292.1:c.1124+1G>C	ENSP00000513229.1:n.1124+1G>C
ENST00000697293.1:c.1124+1G>C	ENSP00000513230.1:n.1124+1G>C
ENST00000697294.1:c.*735+1G>C	ENSP00000513231.1:n.*735+1G>C
ENST00000697295.1:c.*433+1G>C	ENSP00000513232.1:n.*433+1G>C
ENST00000697296.1:c.*792+1G>C	ENSP00000513233.1:n.*792+1G>C
ENST00000697297.1:n.2909+1G>C
ENST00000697298.1:c.878+1G>C	ENSP00000513234.1:n.878+1G>C
ENST00000697299.1:c.878+1G>C	ENSP00000513235.1:n.878+1G>C
ENST00000697300.1:c.*728+1G>C	ENSP00000513236.1:n.*728+1G>C
ENST00000697301.1:c.*645+1G>C	ENSP00000513237.1:n.*645+1G>C
ENST00000697302.1:c.*645+1G>C	ENSP00000513238.1:n.*645+1G>C
ENST00000697303.1:c.*728+1G>C	ENSP00000513239.1:n.*728+1G>C
ENST00000697304.1:c.812+1G>C	ENSP00000513240.1:n.812+1G>C
ENST00000697306.1:c.*124+1G>C	ENSP00000513241.1:n.*124+1G>C
ENST00000697307.1:c.1124+1G>C	ENSP00000513242.1:n.1124+1G>C
ENST00000697308.1:c.1124+1G>C	ENSP00000513243.1:n.1124+1G>C
ENST00000697309.1:c.1124+1G>C	ENSP00000513244.1:n.1124+1G>C
ENST00000697310.1:c.1124+1G>C	ENSP00000513245.1:n.1124+1G>C
ENST00000697311.1:c.1124+1G>C	ENSP00000513246.1:n.1124+1G>C
ENST00000697312.1:c.*522+1G>C	ENSP00000513247.1:n.*522+1G>C
ENST00000697313.1:n.2687+11640G>C
ENST00000697314.1:n.2915+1G>C
ENST00000697315.1:c.1124+1G>C	ENSP00000513248.1:n.1124+1G>C
ENST00000697316.1:n.1245+1G>C
ENST00000697317.1:n.1234+1G>C
ENST00000697318.1:n.1236+1G>C
ENST00000265433.8:c.1124+1G>C MANE Select	ENSP00000265433.4:n.1124+1G>C
ENST00000265433.7:c.1124+1G>C	ENSP00000265433.3:n.1124+1G>C
ENST00000396252.6:c.*997+1G>C	ENSP00000379551.2:n.*997+1G>C
ENST00000409330.5:c.878+1G>C	ENSP00000386924.1:n.878+1G>C
NM_001024688.2:c.878+1G>C	NP_001019859.1:n.878+1G>C
NM_002485.4:c.1124+1G>C , LRG_158t1:c.1124+1G>C	NP_002476.2:n.1124+1G>C
XM_011517044.1:c.1100+1G>C	XP_011515346.1:n.1100+1G>C
XM_011517045.1:c.878+1G>C	XP_011515347.1:n.878+1G>C
XM_011517046.1:c.1124+1G>C	XP_011515348.1:n.1124+1G>C
XR_928335.1:n.1261+1G>C
XM_017013460.1:c.245+1G>C	XP_016868949.1:n.245+1G>C
XM_017013462.2:c.245+1G>C	XP_016868951.1:n.245+1G>C
XM_024447163.1:c.878+1G>C	XP_024302931.1:n.878+1G>C
XM_024447164.1:c.878+1G>C	XP_024302932.1:n.878+1G>C
XM_024447165.1:c.245+1G>C	XP_024302933.1:n.245+1G>C
NM_002485.5:c.1124+1G>C MANE Select	NP_002476.2:n.1124+1G>C
NM_001024688.3:c.878+1G>C	NP_001019859.1:n.878+1G>C