Canonical Allele Identifier: CA186793

Gene: NBN

Linked Data

• ClinVar Variation Id: 183863
• ClinVar RCV Id: RCV000162717 ; RCV000931948 ; RCV001503777 ; RCV003937483
• dbSNP Id: rs757753217
• ExAC: 8:90958449 C / T
• gnomAD v2: 8-90958449-C-T
• gnomAD v3: 8-89946221-C-T
• gnomAD v4: 8-89946221-C-T
• MyVariant Identifiers: chr8:g.90958449C>T (hg19) ; chr8:g.89946221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946221C>T , CM000670.2:g.89946221C>T	GRCh38
NC_000008.10:g.90958449C>T , CM000670.1:g.90958449C>T	GRCh37
NC_000008.9:g.91027625C>T	NCBI36
NG_008860.1:g.43451G>A , LRG_158:g.43451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3291G>A
ENST00000517337.2:c.1743G>A	ENSP00000429971.2:p.Val581=
ENST00000523444.2:c.1743G>A	ENSP00000428252.2:p.Val581=
ENST00000697292.1:c.1989G>A	ENSP00000513229.1:p.Val663=
ENST00000697293.1:c.1989G>A	ENSP00000513230.1:p.Val663=
ENST00000697294.1:c.*1600G>A	ENSP00000513231.1:n.*1600G>A
ENST00000697295.1:c.*1298G>A	ENSP00000513232.1:n.*1298G>A
ENST00000697296.1:c.*1657G>A	ENSP00000513233.1:n.*1657G>A
ENST00000697297.1:n.3774G>A
ENST00000697298.1:c.1743G>A	ENSP00000513234.1:p.Val581=
ENST00000697299.1:c.1743G>A	ENSP00000513235.1:p.Val581=
ENST00000697300.1:c.*1593G>A	ENSP00000513236.1:n.*1593G>A
ENST00000697301.1:c.*1510G>A	ENSP00000513237.1:n.*1510G>A
ENST00000697302.1:c.*1510G>A	ENSP00000513238.1:n.*1510G>A
ENST00000697303.1:c.*1593G>A	ENSP00000513239.1:n.*1593G>A
ENST00000697304.1:c.1677G>A	ENSP00000513240.1:p.Val559=
ENST00000697306.1:c.*2540G>A	ENSP00000513241.1:n.*2540G>A
ENST00000697307.1:c.1846-2855G>A	ENSP00000513242.1:n.1846-2855G>A
ENST00000697308.1:c.1920G>A	ENSP00000513243.1:p.Val640=
ENST00000697309.1:c.1989G>A	ENSP00000513244.1:p.Val663=
ENST00000697310.1:c.1989G>A	ENSP00000513245.1:p.Val663=
ENST00000697311.1:c.1989G>A	ENSP00000513246.1:p.Val663=
ENST00000697312.1:c.*1387G>A	ENSP00000513247.1:n.*1387G>A
ENST00000697313.1:n.2688-10609G>A
ENST00000697314.1:n.3636+7023G>A
ENST00000697315.1:c.1989G>A	ENSP00000513248.1:p.Val663=
ENST00000697316.1:n.2110G>A
ENST00000697317.1:n.2080G>A
ENST00000265433.8:c.1989G>A MANE Select	ENSP00000265433.4:p.Val663=
ENST00000265433.7:c.1989G>A	ENSP00000265433.3:p.Val663=
ENST00000396252.6:c.*1862G>A	ENSP00000379551.2:n.*1862G>A
ENST00000409330.5:c.1743G>A	ENSP00000386924.1:p.Val581=
ENST00000520325.1:n.405G>A
ENST00000613033.1:c.180+1603G>A	ENSP00000484487.1:n.180+1603G>A
NM_001024688.2:c.1743G>A	NP_001019859.1:p.Val581=
NM_002485.4:c.1989G>A , LRG_158t1:c.1989G>A	NP_002476.2:p.Val663=
XM_011517044.1:c.1965G>A	XP_011515346.1:p.Val655=
XM_011517045.1:c.1743G>A	XP_011515347.1:p.Val581=
XM_017013460.1:c.1110G>A	XP_016868949.1:p.Val370=
XM_017013462.2:c.1110G>A	XP_016868951.1:p.Val370=
XM_024447163.1:c.1743G>A	XP_024302931.1:p.Val581=
XM_024447164.1:c.1743G>A	XP_024302932.1:p.Val581=
XM_024447165.1:c.1110G>A	XP_024302933.1:p.Val370=
NM_002485.5:c.1989G>A MANE Select	NP_002476.2:p.Val663=
NM_001024688.3:c.1743G>A	NP_001019859.1:p.Val581=