Canonical Allele Identifier: CA16605423

Gene: NBN

Linked Data

• ClinVar Variation Id: 389678
• ClinVar RCV Id: RCV000436655 ; RCV001459613
• dbSNP Id: rs1057523508
• gnomAD v4: 8-89946212-G-A
• MyVariant Identifiers: chr8:g.90958440G>A (hg19) ; chr8:g.89946212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946212G>A , CM000670.2:g.89946212G>A	GRCh38
NC_000008.10:g.90958440G>A , CM000670.1:g.90958440G>A	GRCh37
NC_000008.9:g.91027616G>A	NCBI36
NG_008860.1:g.43460C>T , LRG_158:g.43460C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3300C>T
ENST00000517337.2:c.1752C>T	ENSP00000429971.2:p.Asn584=
ENST00000523444.2:c.1752C>T	ENSP00000428252.2:p.Asn584=
ENST00000697292.1:c.1998C>T	ENSP00000513229.1:p.Asn666=
ENST00000697293.1:c.1998C>T	ENSP00000513230.1:p.Asn666=
ENST00000697294.1:c.*1609C>T	ENSP00000513231.1:n.*1609C>T
ENST00000697295.1:c.*1307C>T	ENSP00000513232.1:n.*1307C>T
ENST00000697296.1:c.*1666C>T	ENSP00000513233.1:n.*1666C>T
ENST00000697297.1:n.3783C>T
ENST00000697298.1:c.1752C>T	ENSP00000513234.1:p.Asn584=
ENST00000697299.1:c.1752C>T	ENSP00000513235.1:p.Asn584=
ENST00000697300.1:c.*1602C>T	ENSP00000513236.1:n.*1602C>T
ENST00000697301.1:c.*1519C>T	ENSP00000513237.1:n.*1519C>T
ENST00000697302.1:c.*1519C>T	ENSP00000513238.1:n.*1519C>T
ENST00000697303.1:c.*1602C>T	ENSP00000513239.1:n.*1602C>T
ENST00000697304.1:c.1686C>T	ENSP00000513240.1:p.Asn562=
ENST00000697306.1:c.*2549C>T	ENSP00000513241.1:n.*2549C>T
ENST00000697307.1:c.1846-2846C>T	ENSP00000513242.1:n.1846-2846C>T
ENST00000697308.1:c.1929C>T	ENSP00000513243.1:p.Asn643=
ENST00000697309.1:c.1998C>T	ENSP00000513244.1:p.Asn666=
ENST00000697310.1:c.1998C>T	ENSP00000513245.1:p.Asn666=
ENST00000697311.1:c.1998C>T	ENSP00000513246.1:p.Asn666=
ENST00000697312.1:c.*1396C>T	ENSP00000513247.1:n.*1396C>T
ENST00000697313.1:n.2688-10600C>T
ENST00000697314.1:n.3636+7032C>T
ENST00000697315.1:c.1998C>T	ENSP00000513248.1:p.Asn666=
ENST00000697316.1:n.2119C>T
ENST00000697317.1:n.2089C>T
ENST00000265433.8:c.1998C>T MANE Select	ENSP00000265433.4:p.Asn666=
ENST00000265433.7:c.1998C>T	ENSP00000265433.3:p.Asn666=
ENST00000396252.6:c.*1871C>T	ENSP00000379551.2:n.*1871C>T
ENST00000409330.5:c.1752C>T	ENSP00000386924.1:p.Asn584=
ENST00000520325.1:n.414C>T
ENST00000613033.1:c.180+1612C>T	ENSP00000484487.1:n.180+1612C>T
NM_001024688.2:c.1752C>T	NP_001019859.1:p.Asn584=
NM_002485.4:c.1998C>T , LRG_158t1:c.1998C>T	NP_002476.2:p.Asn666=
XM_011517044.1:c.1974C>T	XP_011515346.1:p.Asn658=
XM_011517045.1:c.1752C>T	XP_011515347.1:p.Asn584=
XM_017013460.1:c.1119C>T	XP_016868949.1:p.Asn373=
XM_017013462.2:c.1119C>T	XP_016868951.1:p.Asn373=
XM_024447163.1:c.1752C>T	XP_024302931.1:p.Asn584=
XM_024447164.1:c.1752C>T	XP_024302932.1:p.Asn584=
XM_024447165.1:c.1119C>T	XP_024302933.1:p.Asn373=
NM_002485.5:c.1998C>T MANE Select	NP_002476.2:p.Asn666=
NM_001024688.3:c.1752C>T	NP_001019859.1:p.Asn584=