Canonical Allele Identifier: CA371656922

Gene: NBN

Linked Data

• ClinVar Variation Id: 1453183
• ClinVar RCV Id: RCV001994742 ; RCV003475215
• dbSNP Id: rs748453607
• gnomAD v2: 8-90976666-G-T
• gnomAD v3: 8-89964438-G-T
• gnomAD v4: 8-89964438-G-T
• MyVariant Identifiers: chr8:g.90976666G>T (hg19) ; chr8:g.89964438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964438G>T , CM000670.2:g.89964438G>T	GRCh38
NC_000008.10:g.90976666G>T , CM000670.1:g.90976666G>T	GRCh37
NC_000008.9:g.91045842G>T	NCBI36
NG_008860.1:g.25234C>A , LRG_158:g.25234C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2268C>A
ENST00000517337.2:c.720C>A	ENSP00000429971.2:p.Tyr240Ter
ENST00000523444.2:c.720C>A	ENSP00000428252.2:p.Tyr240Ter
ENST00000697292.1:c.966C>A	ENSP00000513229.1:p.Tyr322Ter
ENST00000697293.1:c.966C>A	ENSP00000513230.1:p.Tyr322Ter
ENST00000697294.1:c.*577C>A	ENSP00000513231.1:n.*577C>A
ENST00000697295.1:c.*275C>A	ENSP00000513232.1:n.*275C>A
ENST00000697296.1:c.*634C>A	ENSP00000513233.1:n.*634C>A
ENST00000697297.1:n.2751C>A
ENST00000697298.1:c.720C>A	ENSP00000513234.1:p.Tyr240Ter
ENST00000697299.1:c.720C>A	ENSP00000513235.1:p.Tyr240Ter
ENST00000697300.1:c.*570C>A	ENSP00000513236.1:n.*570C>A
ENST00000697301.1:c.*487C>A	ENSP00000513237.1:n.*487C>A
ENST00000697302.1:c.*487C>A	ENSP00000513238.1:n.*487C>A
ENST00000697303.1:c.*570C>A	ENSP00000513239.1:n.*570C>A
ENST00000697304.1:c.654C>A	ENSP00000513240.1:p.Tyr218Ter
ENST00000697306.1:c.481-5584C>A	ENSP00000513241.1:n.481-5584C>A
ENST00000697307.1:c.966C>A	ENSP00000513242.1:p.Tyr322Ter
ENST00000697308.1:c.966C>A	ENSP00000513243.1:p.Tyr322Ter
ENST00000697309.1:c.966C>A	ENSP00000513244.1:p.Tyr322Ter
ENST00000697310.1:c.966C>A	ENSP00000513245.1:p.Tyr322Ter
ENST00000697311.1:c.966C>A	ENSP00000513246.1:p.Tyr322Ter
ENST00000697312.1:c.*364C>A	ENSP00000513247.1:n.*364C>A
ENST00000697313.1:n.2687+5926C>A
ENST00000697314.1:n.2757C>A
ENST00000697315.1:c.966C>A	ENSP00000513248.1:p.Tyr322Ter
ENST00000697316.1:n.1087C>A
ENST00000697317.1:n.1076C>A
ENST00000697318.1:n.1078C>A
ENST00000265433.8:c.966C>A MANE Select	ENSP00000265433.4:p.Tyr322Ter
ENST00000265433.7:c.966C>A	ENSP00000265433.3:p.Tyr322Ter
ENST00000396252.6:c.*839C>A	ENSP00000379551.2:n.*839C>A
ENST00000409330.5:c.720C>A	ENSP00000386924.1:p.Tyr240Ter
NM_001024688.2:c.720C>A	NP_001019859.1:p.Tyr240Ter
NM_002485.4:c.966C>A , LRG_158t1:c.966C>A	NP_002476.2:p.Tyr322Ter
XM_011517044.1:c.942C>A	XP_011515346.1:p.Tyr314Ter
XM_011517045.1:c.720C>A	XP_011515347.1:p.Tyr240Ter
XM_011517046.1:c.966C>A	XP_011515348.1:p.Tyr322Ter
XR_928335.1:n.1103C>A
XM_017013460.1:c.87C>A	XP_016868949.1:p.Tyr29Ter
XM_017013462.2:c.87C>A	XP_016868951.1:p.Tyr29Ter
XM_024447163.1:c.720C>A	XP_024302931.1:p.Tyr240Ter
XM_024447164.1:c.720C>A	XP_024302932.1:p.Tyr240Ter
XM_024447165.1:c.87C>A	XP_024302933.1:p.Tyr29Ter
NM_002485.5:c.966C>A MANE Select	NP_002476.2:p.Tyr322Ter
NM_001024688.3:c.720C>A	NP_001019859.1:p.Tyr240Ter