Canonical Allele Identifier: CA461837544

Gene: NBN

Linked Data

• ClinVar Variation Id: 2034699
• ClinVar RCV Id: RCV002877104
• MyVariant Identifiers: chr8:g.90955574T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943346T>A , CM000670.2:g.89943346T>A	GRCh38
NC_000008.10:g.90955574T>A , CM000670.1:g.90955574T>A	GRCh37
NC_000008.9:g.91024750T>A	NCBI36
NG_008860.1:g.46326A>T , LRG_158:g.46326A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3393A>T
ENST00000517337.2:c.1845A>T	ENSP00000429971.2:p.Gly615=
ENST00000523444.2:c.1845A>T	ENSP00000428252.2:p.Gly615=
ENST00000697292.1:c.2091A>T	ENSP00000513229.1:p.Gly697=
ENST00000697293.1:c.2091A>T	ENSP00000513230.1:p.Gly697=
ENST00000697294.1:c.*1702A>T	ENSP00000513231.1:n.*1702A>T
ENST00000697295.1:c.*1400A>T	ENSP00000513232.1:n.*1400A>T
ENST00000697296.1:c.*1759A>T	ENSP00000513233.1:n.*1759A>T
ENST00000697297.1:n.3876A>T
ENST00000697298.1:c.1845A>T	ENSP00000513234.1:p.Gly615=
ENST00000697299.1:c.1845A>T	ENSP00000513235.1:p.Gly615=
ENST00000697300.1:c.*1695A>T	ENSP00000513236.1:n.*1695A>T
ENST00000697301.1:c.*1612A>T	ENSP00000513237.1:n.*1612A>T
ENST00000697302.1:c.*1612A>T	ENSP00000513238.1:n.*1612A>T
ENST00000697303.1:c.*1695A>T	ENSP00000513239.1:n.*1695A>T
ENST00000697304.1:c.1779A>T	ENSP00000513240.1:p.Gly593=
ENST00000697305.1:n.2358A>T
ENST00000697306.1:c.*2642A>T	ENSP00000513241.1:n.*2642A>T
ENST00000697307.1:c.1866A>T	ENSP00000513242.1:p.Gly622=
ENST00000697308.1:c.2022A>T	ENSP00000513243.1:p.Gly674=
ENST00000697309.1:c.2091A>T	ENSP00000513244.1:p.Gly697=
ENST00000697310.1:c.2091A>T	ENSP00000513245.1:p.Gly697=
ENST00000697311.1:c.2091A>T	ENSP00000513246.1:p.Gly697=
ENST00000697312.1:c.*1489A>T	ENSP00000513247.1:n.*1489A>T
ENST00000697313.1:n.2688-7734A>T
ENST00000697314.1:n.3637-7734A>T
ENST00000697315.1:c.2091A>T	ENSP00000513248.1:p.Gly697=
ENST00000697316.1:n.2212A>T
ENST00000265433.8:c.2091A>T MANE Select	ENSP00000265433.4:p.Gly697=
ENST00000265433.7:c.2091A>T	ENSP00000265433.3:p.Gly697=
ENST00000396252.6:c.*1964A>T	ENSP00000379551.2:n.*1964A>T
ENST00000409330.5:c.1845A>T	ENSP00000386924.1:p.Gly615=
ENST00000613033.1:c.201A>T	ENSP00000484487.1:p.Gly67=
NM_001024688.2:c.1845A>T	NP_001019859.1:p.Gly615=
NM_002485.4:c.2091A>T , LRG_158t1:c.2091A>T	NP_002476.2:p.Gly697=
XM_011517044.1:c.2067A>T	XP_011515346.1:p.Gly689=
XM_011517045.1:c.1845A>T	XP_011515347.1:p.Gly615=
XM_017013460.1:c.1212A>T	XP_016868949.1:p.Gly404=
XM_017013462.2:c.1212A>T	XP_016868951.1:p.Gly404=
XM_024447163.1:c.1845A>T	XP_024302931.1:p.Gly615=
XM_024447164.1:c.1845A>T	XP_024302932.1:p.Gly615=
XM_024447165.1:c.1212A>T	XP_024302933.1:p.Gly404=
NM_002485.5:c.2091A>T MANE Select	NP_002476.2:p.Gly697=
NM_001024688.3:c.1845A>T	NP_001019859.1:p.Gly615=