Canonical Allele Identifier: CA371674750

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949260A>T (hg19) ; chr8:g.89937032A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937032A>T , CM000670.2:g.89937032A>T	GRCh38
NC_000008.10:g.90949260A>T , CM000670.1:g.90949260A>T	GRCh37
NC_000008.9:g.91018436A>T	NCBI36
NG_008860.1:g.52640T>A , LRG_158:g.52640T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474821.2:n.3648T>A
ENST00000494804.2:n.3530T>A
ENST00000517337.2:c.1982T>A	ENSP00000429971.2:p.Leu661His
ENST00000523444.2:c.1982T>A	ENSP00000428252.2:p.Leu661His
ENST00000697292.1:c.2228T>A	ENSP00000513229.1:p.Leu743His
ENST00000697293.1:c.2279T>A	ENSP00000513230.1:p.Leu760His
ENST00000697294.1:c.*1839T>A	ENSP00000513231.1:n.*1839T>A
ENST00000697295.1:c.*1537T>A	ENSP00000513232.1:n.*1537T>A
ENST00000697296.1:c.*1896T>A	ENSP00000513233.1:n.*1896T>A
ENST00000697297.1:n.4013T>A
ENST00000697298.1:c.1982T>A	ENSP00000513234.1:p.Leu661His
ENST00000697299.1:c.1982T>A	ENSP00000513235.1:p.Leu661His
ENST00000697300.1:c.*1832T>A	ENSP00000513236.1:n.*1832T>A
ENST00000697301.1:c.*1749T>A	ENSP00000513237.1:n.*1749T>A
ENST00000697302.1:c.*1749T>A	ENSP00000513238.1:n.*1749T>A
ENST00000697303.1:c.*1832T>A	ENSP00000513239.1:n.*1832T>A
ENST00000697304.1:c.1916T>A	ENSP00000513240.1:p.Leu639His
ENST00000697305.1:n.2495T>A
ENST00000697306.1:c.*2779T>A	ENSP00000513241.1:n.*2779T>A
ENST00000697307.1:c.2003T>A	ENSP00000513242.1:p.Leu668His
ENST00000697308.1:c.2159T>A	ENSP00000513243.1:p.Leu720His
ENST00000697309.1:c.2185-1420T>A	ENSP00000513244.1:n.2185-1420T>A
ENST00000697310.1:c.2228T>A	ENSP00000513245.1:p.Leu743His
ENST00000697311.1:c.*493T>A	ENSP00000513246.1:n.*493T>A
ENST00000697312.1:c.*1681T>A	ENSP00000513247.1:n.*1681T>A
ENST00000697313.1:n.2688-1420T>A
ENST00000697314.1:n.3637-1420T>A
ENST00000697315.1:c.*132T>A	ENSP00000513248.1:n.*132T>A
ENST00000697316.1:n.2349T>A
ENST00000265433.8:c.2228T>A MANE Select	ENSP00000265433.4:p.Leu743His
ENST00000265433.7:c.2228T>A	ENSP00000265433.3:p.Leu743His
ENST00000396252.6:c.*2101T>A	ENSP00000379551.2:n.*2101T>A
ENST00000409330.5:c.1982T>A	ENSP00000386924.1:p.Leu661His
ENST00000474821.1:n.316T>A
ENST00000613033.1:c.338T>A	ENSP00000484487.1:p.Leu113His
NM_001024688.2:c.1982T>A	NP_001019859.1:p.Leu661His
NM_002485.4:c.2228T>A , LRG_158t1:c.2228T>A	NP_002476.2:p.Leu743His
XM_011517044.1:c.2204T>A	XP_011515346.1:p.Leu735His
XM_011517045.1:c.1982T>A	XP_011515347.1:p.Leu661His
XM_017013460.1:c.1349T>A	XP_016868949.1:p.Leu450His
XM_017013462.2:c.1349T>A	XP_016868951.1:p.Leu450His
XM_024447163.1:c.1982T>A	XP_024302931.1:p.Leu661His
XM_024447164.1:c.1982T>A	XP_024302932.1:p.Leu661His
XM_024447165.1:c.1349T>A	XP_024302933.1:p.Leu450His
NM_002485.5:c.2228T>A MANE Select	NP_002476.2:p.Leu743His
NM_001024688.3:c.1982T>A	NP_001019859.1:p.Leu661His