Canonical Allele Identifier: CA371658964

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90983420A>G (hg19) ; chr8:g.89971192A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971192A>G , CM000670.2:g.89971192A>G	GRCh38
NC_000008.10:g.90983420A>G , CM000670.1:g.90983420A>G	GRCh37
NC_000008.9:g.91052596A>G	NCBI36
NG_008860.1:g.18480T>C , LRG_158:g.18480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1985T>C
ENST00000517337.2:c.437T>C	ENSP00000429971.2:p.Ile146Thr
ENST00000523444.2:c.437T>C	ENSP00000428252.2:p.Ile146Thr
ENST00000697292.1:c.683T>C	ENSP00000513229.1:p.Ile228Thr
ENST00000697293.1:c.683T>C	ENSP00000513230.1:p.Ile228Thr
ENST00000697294.1:c.*294T>C	ENSP00000513231.1:n.*294T>C
ENST00000697295.1:c.136T>C	ENSP00000513232.1:p.Tyr46His
ENST00000697296.1:c.*351T>C	ENSP00000513233.1:n.*351T>C
ENST00000697297.1:n.2468T>C
ENST00000697298.1:c.437T>C	ENSP00000513234.1:p.Ile146Thr
ENST00000697299.1:c.437T>C	ENSP00000513235.1:p.Ile146Thr
ENST00000697300.1:c.*287T>C	ENSP00000513236.1:n.*287T>C
ENST00000697301.1:c.*204T>C	ENSP00000513237.1:n.*204T>C
ENST00000697302.1:c.*204T>C	ENSP00000513238.1:n.*204T>C
ENST00000697303.1:c.*287T>C	ENSP00000513239.1:n.*287T>C
ENST00000697304.1:c.585-6685T>C	ENSP00000513240.1:n.585-6685T>C
ENST00000697306.1:c.480+9542T>C	ENSP00000513241.1:n.480+9542T>C
ENST00000697307.1:c.683T>C	ENSP00000513242.1:p.Ile228Thr
ENST00000697308.1:c.683T>C	ENSP00000513243.1:p.Ile228Thr
ENST00000697309.1:c.683T>C	ENSP00000513244.1:p.Ile228Thr
ENST00000697310.1:c.683T>C	ENSP00000513245.1:p.Ile228Thr
ENST00000697311.1:c.683T>C	ENSP00000513246.1:p.Ile228Thr
ENST00000697312.1:c.*81T>C	ENSP00000513247.1:n.*81T>C
ENST00000697313.1:n.2474T>C
ENST00000697314.1:n.2474T>C
ENST00000697315.1:c.683T>C	ENSP00000513248.1:p.Ile228Thr
ENST00000697316.1:n.804T>C
ENST00000697317.1:n.793T>C
ENST00000697318.1:n.795T>C
ENST00000265433.8:c.683T>C MANE Select	ENSP00000265433.4:p.Ile228Thr
ENST00000265433.7:c.683T>C	ENSP00000265433.3:p.Ile228Thr
ENST00000396252.6:c.*556T>C	ENSP00000379551.2:n.*556T>C
ENST00000409330.5:c.437T>C	ENSP00000386924.1:p.Ile146Thr
ENST00000517772.5:c.437T>C	ENSP00000428717.1:p.Ile146Thr
ENST00000519426.5:c.419T>C	ENSP00000430983.1:p.Ile140Thr
NM_001024688.2:c.437T>C	NP_001019859.1:p.Ile146Thr
NM_002485.4:c.683T>C , LRG_158t1:c.683T>C	NP_002476.2:p.Ile228Thr
XM_011517044.1:c.659T>C	XP_011515346.1:p.Ile220Thr
XM_011517045.1:c.437T>C	XP_011515347.1:p.Ile146Thr
XM_011517046.1:c.683T>C	XP_011515348.1:p.Ile228Thr
XR_928335.1:n.820T>C
XM_017013460.1:c.-197T>C	XP_016868949.1:n.-197T>C
XM_017013462.2:c.-197T>C	XP_016868951.1:n.-197T>C
XM_024447163.1:c.437T>C	XP_024302931.1:p.Ile146Thr
XM_024447164.1:c.437T>C	XP_024302932.1:p.Ile146Thr
XM_024447165.1:c.-197T>C	XP_024302933.1:n.-197T>C
NM_002485.5:c.683T>C MANE Select	NP_002476.2:p.Ile228Thr
NM_001024688.3:c.437T>C	NP_001019859.1:p.Ile146Thr