Canonical Allele Identifier: CA4802823

Gene: NBN

Linked Data

• dbSNP Id: rs757217130
• ExAC: 8:90976587 G / A
• gnomAD v2: 8-90976587-G-A
• gnomAD v3: 8-89964359-G-A
• gnomAD v4: 8-89964359-G-A
• MyVariant Identifiers: chr8:g.90976587G>A (hg19) ; chr8:g.89964359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964359G>A , CM000670.2:g.89964359G>A	GRCh38
NC_000008.10:g.90976587G>A , CM000670.1:g.90976587G>A	GRCh37
NC_000008.9:g.91045763G>A	NCBI36
NG_008860.1:g.25313C>T , LRG_158:g.25313C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2296+51C>T
ENST00000517337.2:c.748+51C>T	ENSP00000429971.2:n.748+51C>T
ENST00000523444.2:c.748+51C>T	ENSP00000428252.2:n.748+51C>T
ENST00000697292.1:c.994+51C>T	ENSP00000513229.1:n.994+51C>T
ENST00000697293.1:c.994+51C>T	ENSP00000513230.1:n.994+51C>T
ENST00000697294.1:c.*605+51C>T	ENSP00000513231.1:n.*605+51C>T
ENST00000697295.1:c.*303+51C>T	ENSP00000513232.1:n.*303+51C>T
ENST00000697296.1:c.*662+51C>T	ENSP00000513233.1:n.*662+51C>T
ENST00000697297.1:n.2779+51C>T
ENST00000697298.1:c.748+51C>T	ENSP00000513234.1:n.748+51C>T
ENST00000697299.1:c.748+51C>T	ENSP00000513235.1:n.748+51C>T
ENST00000697300.1:c.*598+51C>T	ENSP00000513236.1:n.*598+51C>T
ENST00000697301.1:c.*515+51C>T	ENSP00000513237.1:n.*515+51C>T
ENST00000697302.1:c.*515+51C>T	ENSP00000513238.1:n.*515+51C>T
ENST00000697303.1:c.*598+51C>T	ENSP00000513239.1:n.*598+51C>T
ENST00000697304.1:c.682+51C>T	ENSP00000513240.1:n.682+51C>T
ENST00000697306.1:c.481-5505C>T	ENSP00000513241.1:n.481-5505C>T
ENST00000697307.1:c.994+51C>T	ENSP00000513242.1:n.994+51C>T
ENST00000697308.1:c.994+51C>T	ENSP00000513243.1:n.994+51C>T
ENST00000697309.1:c.994+51C>T	ENSP00000513244.1:n.994+51C>T
ENST00000697310.1:c.994+51C>T	ENSP00000513245.1:n.994+51C>T
ENST00000697311.1:c.994+51C>T	ENSP00000513246.1:n.994+51C>T
ENST00000697312.1:c.*392+51C>T	ENSP00000513247.1:n.*392+51C>T
ENST00000697313.1:n.2687+6005C>T
ENST00000697314.1:n.2785+51C>T
ENST00000697315.1:c.994+51C>T	ENSP00000513248.1:n.994+51C>T
ENST00000697316.1:n.1115+51C>T
ENST00000697317.1:n.1104+51C>T
ENST00000697318.1:n.1106+51C>T
ENST00000265433.8:c.994+51C>T MANE Select	ENSP00000265433.4:n.994+51C>T
ENST00000265433.7:c.994+51C>T	ENSP00000265433.3:n.994+51C>T
ENST00000396252.6:c.*867+51C>T	ENSP00000379551.2:n.*867+51C>T
ENST00000409330.5:c.748+51C>T	ENSP00000386924.1:n.748+51C>T
NM_001024688.2:c.748+51C>T	NP_001019859.1:n.748+51C>T
NM_002485.4:c.994+51C>T , LRG_158t1:c.994+51C>T	NP_002476.2:n.994+51C>T
XM_011517044.1:c.970+51C>T	XP_011515346.1:n.970+51C>T
XM_011517045.1:c.748+51C>T	XP_011515347.1:n.748+51C>T
XM_011517046.1:c.994+51C>T	XP_011515348.1:n.994+51C>T
XR_928335.1:n.1131+51C>T
XM_017013460.1:c.115+51C>T	XP_016868949.1:n.115+51C>T
XM_017013462.2:c.115+51C>T	XP_016868951.1:n.115+51C>T
XM_024447163.1:c.748+51C>T	XP_024302931.1:n.748+51C>T
XM_024447164.1:c.748+51C>T	XP_024302932.1:n.748+51C>T
XM_024447165.1:c.115+51C>T	XP_024302933.1:n.115+51C>T
NM_002485.5:c.994+51C>T MANE Select	NP_002476.2:n.994+51C>T
NM_001024688.3:c.748+51C>T	NP_001019859.1:n.748+51C>T