Canonical Allele Identifier: CA287916

Gene: NBN

Linked Data

• ClinVar Variation Id: 127864
• ClinVar RCV Id: RCV000115787 ; RCV000206186 ; RCV000569267 ; RCV003474714
• dbSNP Id: rs587780092
• MyVariant Identifiers: chr8:g.90958370T>G (hg19) ; chr8:g.89946142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946142T>G , CM000670.2:g.89946142T>G	GRCh38
NC_000008.10:g.90958370T>G , CM000670.1:g.90958370T>G	GRCh37
NC_000008.9:g.91027546T>G	NCBI36
NG_008860.1:g.43530A>C , LRG_158:g.43530A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3370A>C
ENST00000517337.2:c.1822A>C	ENSP00000429971.2:p.Lys608Gln
ENST00000523444.2:c.1822A>C	ENSP00000428252.2:p.Lys608Gln
ENST00000697292.1:c.2068A>C	ENSP00000513229.1:p.Lys690Gln
ENST00000697293.1:c.2068A>C	ENSP00000513230.1:p.Lys690Gln
ENST00000697294.1:c.*1679A>C	ENSP00000513231.1:n.*1679A>C
ENST00000697295.1:c.*1377A>C	ENSP00000513232.1:n.*1377A>C
ENST00000697296.1:c.*1736A>C	ENSP00000513233.1:n.*1736A>C
ENST00000697297.1:n.3853A>C
ENST00000697298.1:c.1822A>C	ENSP00000513234.1:p.Lys608Gln
ENST00000697299.1:c.1822A>C	ENSP00000513235.1:p.Lys608Gln
ENST00000697300.1:c.*1672A>C	ENSP00000513236.1:n.*1672A>C
ENST00000697301.1:c.*1589A>C	ENSP00000513237.1:n.*1589A>C
ENST00000697302.1:c.*1589A>C	ENSP00000513238.1:n.*1589A>C
ENST00000697303.1:c.*1672A>C	ENSP00000513239.1:n.*1672A>C
ENST00000697304.1:c.1756A>C	ENSP00000513240.1:p.Lys586Gln
ENST00000697306.1:c.*2619A>C	ENSP00000513241.1:n.*2619A>C
ENST00000697307.1:c.1846-2776A>C	ENSP00000513242.1:n.1846-2776A>C
ENST00000697308.1:c.1999A>C	ENSP00000513243.1:p.Lys667Gln
ENST00000697309.1:c.2068A>C	ENSP00000513244.1:p.Lys690Gln
ENST00000697310.1:c.2068A>C	ENSP00000513245.1:p.Lys690Gln
ENST00000697311.1:c.2068A>C	ENSP00000513246.1:p.Lys690Gln
ENST00000697312.1:c.*1466A>C	ENSP00000513247.1:n.*1466A>C
ENST00000697313.1:n.2688-10530A>C
ENST00000697314.1:n.3636+7102A>C
ENST00000697315.1:c.2068A>C	ENSP00000513248.1:p.Lys690Gln
ENST00000697316.1:n.2189A>C
ENST00000697317.1:n.2159A>C
ENST00000265433.8:c.2068A>C MANE Select	ENSP00000265433.4:p.Lys690Gln
ENST00000265433.7:c.2068A>C	ENSP00000265433.3:p.Lys690Gln
ENST00000396252.6:c.*1941A>C	ENSP00000379551.2:n.*1941A>C
ENST00000409330.5:c.1822A>C	ENSP00000386924.1:p.Lys608Gln
ENST00000520325.1:n.484A>C
ENST00000613033.1:c.180+1682A>C	ENSP00000484487.1:n.180+1682A>C
NM_001024688.2:c.1822A>C	NP_001019859.1:p.Lys608Gln
NM_002485.4:c.2068A>C , LRG_158t1:c.2068A>C	NP_002476.2:p.Lys690Gln
XM_011517044.1:c.2044A>C	XP_011515346.1:p.Lys682Gln
XM_011517045.1:c.1822A>C	XP_011515347.1:p.Lys608Gln
XM_017013460.1:c.1189A>C	XP_016868949.1:p.Lys397Gln
XM_017013462.2:c.1189A>C	XP_016868951.1:p.Lys397Gln
XM_024447163.1:c.1822A>C	XP_024302931.1:p.Lys608Gln
XM_024447164.1:c.1822A>C	XP_024302932.1:p.Lys608Gln
XM_024447165.1:c.1189A>C	XP_024302933.1:p.Lys397Gln
NM_002485.5:c.2068A>C MANE Select	NP_002476.2:p.Lys690Gln
NM_001024688.3:c.1822A>C	NP_001019859.1:p.Lys608Gln