Canonical Allele Identifier: CA371674772

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949270C>T (hg19) ; chr8:g.89937042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937042C>T , CM000670.2:g.89937042C>T	GRCh38
NC_000008.10:g.90949270C>T , CM000670.1:g.90949270C>T	GRCh37
NC_000008.9:g.91018446C>T	NCBI36
NG_008860.1:g.52630G>A , LRG_158:g.52630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3638G>A
ENST00000494804.2:n.3520G>A
ENST00000517337.2:c.1972G>A	ENSP00000429971.2:p.Ala658Thr
ENST00000523444.2:c.1972G>A	ENSP00000428252.2:p.Ala658Thr
ENST00000697292.1:c.2218G>A	ENSP00000513229.1:p.Ala740Thr
ENST00000697293.1:c.2269G>A	ENSP00000513230.1:p.Ala757Thr
ENST00000697294.1:c.*1829G>A	ENSP00000513231.1:n.*1829G>A
ENST00000697295.1:c.*1527G>A	ENSP00000513232.1:n.*1527G>A
ENST00000697296.1:c.*1886G>A	ENSP00000513233.1:n.*1886G>A
ENST00000697297.1:n.4003G>A
ENST00000697298.1:c.1972G>A	ENSP00000513234.1:p.Ala658Thr
ENST00000697299.1:c.1972G>A	ENSP00000513235.1:p.Ala658Thr
ENST00000697300.1:c.*1822G>A	ENSP00000513236.1:n.*1822G>A
ENST00000697301.1:c.*1739G>A	ENSP00000513237.1:n.*1739G>A
ENST00000697302.1:c.*1739G>A	ENSP00000513238.1:n.*1739G>A
ENST00000697303.1:c.*1822G>A	ENSP00000513239.1:n.*1822G>A
ENST00000697304.1:c.1906G>A	ENSP00000513240.1:p.Ala636Thr
ENST00000697305.1:n.2485G>A
ENST00000697306.1:c.*2769G>A	ENSP00000513241.1:n.*2769G>A
ENST00000697307.1:c.1993G>A	ENSP00000513242.1:p.Ala665Thr
ENST00000697308.1:c.2149G>A	ENSP00000513243.1:p.Ala717Thr
ENST00000697309.1:c.2185-1430G>A	ENSP00000513244.1:n.2185-1430G>A
ENST00000697310.1:c.2218G>A	ENSP00000513245.1:p.Ala740Thr
ENST00000697311.1:c.*483G>A	ENSP00000513246.1:n.*483G>A
ENST00000697312.1:c.*1671G>A	ENSP00000513247.1:n.*1671G>A
ENST00000697313.1:n.2688-1430G>A
ENST00000697314.1:n.3637-1430G>A
ENST00000697315.1:c.*122G>A	ENSP00000513248.1:n.*122G>A
ENST00000697316.1:n.2339G>A
ENST00000265433.8:c.2218G>A MANE Select	ENSP00000265433.4:p.Ala740Thr
ENST00000265433.7:c.2218G>A	ENSP00000265433.3:p.Ala740Thr
ENST00000396252.6:c.*2091G>A	ENSP00000379551.2:n.*2091G>A
ENST00000409330.5:c.1972G>A	ENSP00000386924.1:p.Ala658Thr
ENST00000474821.1:n.306G>A
ENST00000613033.1:c.328G>A	ENSP00000484487.1:p.Ala110Thr
NM_001024688.2:c.1972G>A	NP_001019859.1:p.Ala658Thr
NM_002485.4:c.2218G>A , LRG_158t1:c.2218G>A	NP_002476.2:p.Ala740Thr
XM_011517044.1:c.2194G>A	XP_011515346.1:p.Ala732Thr
XM_011517045.1:c.1972G>A	XP_011515347.1:p.Ala658Thr
XM_017013460.1:c.1339G>A	XP_016868949.1:p.Ala447Thr
XM_017013462.2:c.1339G>A	XP_016868951.1:p.Ala447Thr
XM_024447163.1:c.1972G>A	XP_024302931.1:p.Ala658Thr
XM_024447164.1:c.1972G>A	XP_024302932.1:p.Ala658Thr
XM_024447165.1:c.1339G>A	XP_024302933.1:p.Ala447Thr
NM_002485.5:c.2218G>A MANE Select	NP_002476.2:p.Ala740Thr
NM_001024688.3:c.1972G>A	NP_001019859.1:p.Ala658Thr