Canonical Allele Identifier: CA371676771

Gene: NBN

Linked Data

• ClinVar Variation Id: 1782923
• ClinVar RCV Id: RCV002410956
• dbSNP Id: rs1064796613
• MyVariant Identifiers: chr8:g.90958505C>G (hg19) ; chr8:g.89946277C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946277C>G , CM000670.2:g.89946277C>G	GRCh38
NC_000008.10:g.90958505C>G , CM000670.1:g.90958505C>G	GRCh37
NC_000008.9:g.91027681C>G	NCBI36
NG_008860.1:g.43395G>C , LRG_158:g.43395G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3235G>C
ENST00000517337.2:c.1687G>C	ENSP00000429971.2:p.Asp563His
ENST00000523444.2:c.1687G>C	ENSP00000428252.2:p.Asp563His
ENST00000697292.1:c.1933G>C	ENSP00000513229.1:p.Asp645His
ENST00000697293.1:c.1933G>C	ENSP00000513230.1:p.Asp645His
ENST00000697294.1:c.*1544G>C	ENSP00000513231.1:n.*1544G>C
ENST00000697295.1:c.*1242G>C	ENSP00000513232.1:n.*1242G>C
ENST00000697296.1:c.*1601G>C	ENSP00000513233.1:n.*1601G>C
ENST00000697297.1:n.3718G>C
ENST00000697298.1:c.1687G>C	ENSP00000513234.1:p.Asp563His
ENST00000697299.1:c.1687G>C	ENSP00000513235.1:p.Asp563His
ENST00000697300.1:c.*1537G>C	ENSP00000513236.1:n.*1537G>C
ENST00000697301.1:c.*1454G>C	ENSP00000513237.1:n.*1454G>C
ENST00000697302.1:c.*1454G>C	ENSP00000513238.1:n.*1454G>C
ENST00000697303.1:c.*1537G>C	ENSP00000513239.1:n.*1537G>C
ENST00000697304.1:c.1621G>C	ENSP00000513240.1:p.Asp541His
ENST00000697306.1:c.*2484G>C	ENSP00000513241.1:n.*2484G>C
ENST00000697307.1:c.1846-2911G>C	ENSP00000513242.1:n.1846-2911G>C
ENST00000697308.1:c.1864G>C	ENSP00000513243.1:p.Asp622His
ENST00000697309.1:c.1933G>C	ENSP00000513244.1:p.Asp645His
ENST00000697310.1:c.1933G>C	ENSP00000513245.1:p.Asp645His
ENST00000697311.1:c.1933G>C	ENSP00000513246.1:p.Asp645His
ENST00000697312.1:c.*1331G>C	ENSP00000513247.1:n.*1331G>C
ENST00000697313.1:n.2688-10665G>C
ENST00000697314.1:n.3636+6967G>C
ENST00000697315.1:c.1933G>C	ENSP00000513248.1:p.Asp645His
ENST00000697316.1:n.2054G>C
ENST00000697317.1:n.2024G>C
ENST00000265433.8:c.1933G>C MANE Select	ENSP00000265433.4:p.Asp645His
ENST00000265433.7:c.1933G>C	ENSP00000265433.3:p.Asp645His
ENST00000396252.6:c.*1806G>C	ENSP00000379551.2:n.*1806G>C
ENST00000409330.5:c.1687G>C	ENSP00000386924.1:p.Asp563His
ENST00000520325.1:n.349G>C
ENST00000613033.1:c.180+1547G>C	ENSP00000484487.1:n.180+1547G>C
NM_001024688.2:c.1687G>C	NP_001019859.1:p.Asp563His
NM_002485.4:c.1933G>C , LRG_158t1:c.1933G>C	NP_002476.2:p.Asp645His
XM_011517044.1:c.1909G>C	XP_011515346.1:p.Asp637His
XM_011517045.1:c.1687G>C	XP_011515347.1:p.Asp563His
XR_928335.1:n.2072G>C
XM_017013460.1:c.1054G>C	XP_016868949.1:p.Asp352His
XM_017013462.2:c.1054G>C	XP_016868951.1:p.Asp352His
XM_024447163.1:c.1687G>C	XP_024302931.1:p.Asp563His
XM_024447164.1:c.1687G>C	XP_024302932.1:p.Asp563His
XM_024447165.1:c.1054G>C	XP_024302933.1:p.Asp352His
NM_002485.5:c.1933G>C MANE Select	NP_002476.2:p.Asp645His
NM_001024688.3:c.1687G>C	NP_001019859.1:p.Asp563His