Canonical Allele Identifier: CA371674826

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949296T>G (hg19) ; chr8:g.89937068T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937068T>G , CM000670.2:g.89937068T>G	GRCh38
NC_000008.10:g.90949296T>G , CM000670.1:g.90949296T>G	GRCh37
NC_000008.9:g.91018472T>G	NCBI36
NG_008860.1:g.52604A>C , LRG_158:g.52604A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3612A>C
ENST00000494804.2:n.3494A>C
ENST00000517337.2:c.1946A>C	ENSP00000429971.2:p.Asn649Thr
ENST00000523444.2:c.1946A>C	ENSP00000428252.2:p.Asn649Thr
ENST00000697292.1:c.2192A>C	ENSP00000513229.1:p.Asn731Thr
ENST00000697293.1:c.2243A>C	ENSP00000513230.1:p.Asn748Thr
ENST00000697294.1:c.*1803A>C	ENSP00000513231.1:n.*1803A>C
ENST00000697295.1:c.*1501A>C	ENSP00000513232.1:n.*1501A>C
ENST00000697296.1:c.*1860A>C	ENSP00000513233.1:n.*1860A>C
ENST00000697297.1:n.3977A>C
ENST00000697298.1:c.1946A>C	ENSP00000513234.1:p.Asn649Thr
ENST00000697299.1:c.1946A>C	ENSP00000513235.1:p.Asn649Thr
ENST00000697300.1:c.*1796A>C	ENSP00000513236.1:n.*1796A>C
ENST00000697301.1:c.*1713A>C	ENSP00000513237.1:n.*1713A>C
ENST00000697302.1:c.*1713A>C	ENSP00000513238.1:n.*1713A>C
ENST00000697303.1:c.*1796A>C	ENSP00000513239.1:n.*1796A>C
ENST00000697304.1:c.1880A>C	ENSP00000513240.1:p.Asn627Thr
ENST00000697305.1:n.2459A>C
ENST00000697306.1:c.*2743A>C	ENSP00000513241.1:n.*2743A>C
ENST00000697307.1:c.1967A>C	ENSP00000513242.1:p.Asn656Thr
ENST00000697308.1:c.2123A>C	ENSP00000513243.1:p.Asn708Thr
ENST00000697309.1:c.2185-1456A>C	ENSP00000513244.1:n.2185-1456A>C
ENST00000697310.1:c.2192A>C	ENSP00000513245.1:p.Asn731Thr
ENST00000697311.1:c.*457A>C	ENSP00000513246.1:n.*457A>C
ENST00000697312.1:c.*1645A>C	ENSP00000513247.1:n.*1645A>C
ENST00000697313.1:n.2688-1456A>C
ENST00000697314.1:n.3637-1456A>C
ENST00000697315.1:c.*96A>C	ENSP00000513248.1:n.*96A>C
ENST00000697316.1:n.2313A>C
ENST00000265433.8:c.2192A>C MANE Select	ENSP00000265433.4:p.Asn731Thr
ENST00000265433.7:c.2192A>C	ENSP00000265433.3:p.Asn731Thr
ENST00000396252.6:c.*2065A>C	ENSP00000379551.2:n.*2065A>C
ENST00000409330.5:c.1946A>C	ENSP00000386924.1:p.Asn649Thr
ENST00000474821.1:n.280A>C
ENST00000613033.1:c.302A>C	ENSP00000484487.1:p.Asn101Thr
NM_001024688.2:c.1946A>C	NP_001019859.1:p.Asn649Thr
NM_002485.4:c.2192A>C , LRG_158t1:c.2192A>C	NP_002476.2:p.Asn731Thr
XM_011517044.1:c.2168A>C	XP_011515346.1:p.Asn723Thr
XM_011517045.1:c.1946A>C	XP_011515347.1:p.Asn649Thr
XM_017013460.1:c.1313A>C	XP_016868949.1:p.Asn438Thr
XM_017013462.2:c.1313A>C	XP_016868951.1:p.Asn438Thr
XM_024447163.1:c.1946A>C	XP_024302931.1:p.Asn649Thr
XM_024447164.1:c.1946A>C	XP_024302932.1:p.Asn649Thr
XM_024447165.1:c.1313A>C	XP_024302933.1:p.Asn438Thr
NM_002485.5:c.2192A>C MANE Select	NP_002476.2:p.Asn731Thr
NM_001024688.3:c.1946A>C	NP_001019859.1:p.Asn649Thr