Canonical Allele Identifier: CA371659161

Gene: NBN

Linked Data

• ClinVar Variation Id: 481832
• ClinVar RCV Id: RCV000562538 ; RCV001034793
• dbSNP Id: rs1554564269
• MyVariant Identifiers: chr8:g.90983463C>G (hg19) ; chr8:g.89971235C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971235C>G , CM000670.2:g.89971235C>G	GRCh38
NC_000008.10:g.90983463C>G , CM000670.1:g.90983463C>G	GRCh37
NC_000008.9:g.91052639C>G	NCBI36
NG_008860.1:g.18437G>C , LRG_158:g.18437G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1942G>C
ENST00000517337.2:c.394G>C	ENSP00000429971.2:p.Gly132Arg
ENST00000523444.2:c.394G>C	ENSP00000428252.2:p.Gly132Arg
ENST00000697292.1:c.640G>C	ENSP00000513229.1:p.Gly214Arg
ENST00000697293.1:c.640G>C	ENSP00000513230.1:p.Gly214Arg
ENST00000697294.1:c.*251G>C	ENSP00000513231.1:n.*251G>C
ENST00000697295.1:c.93G>C	ENSP00000513232.1:p.Gln31His
ENST00000697296.1:c.*308G>C	ENSP00000513233.1:n.*308G>C
ENST00000697297.1:n.2425G>C
ENST00000697298.1:c.394G>C	ENSP00000513234.1:p.Gly132Arg
ENST00000697299.1:c.394G>C	ENSP00000513235.1:p.Gly132Arg
ENST00000697300.1:c.*244G>C	ENSP00000513236.1:n.*244G>C
ENST00000697301.1:c.*161G>C	ENSP00000513237.1:n.*161G>C
ENST00000697302.1:c.*161G>C	ENSP00000513238.1:n.*161G>C
ENST00000697303.1:c.*244G>C	ENSP00000513239.1:n.*244G>C
ENST00000697304.1:c.585-6728G>C	ENSP00000513240.1:n.585-6728G>C
ENST00000697306.1:c.480+9499G>C	ENSP00000513241.1:n.480+9499G>C
ENST00000697307.1:c.640G>C	ENSP00000513242.1:p.Gly214Arg
ENST00000697308.1:c.640G>C	ENSP00000513243.1:p.Gly214Arg
ENST00000697309.1:c.640G>C	ENSP00000513244.1:p.Gly214Arg
ENST00000697310.1:c.640G>C	ENSP00000513245.1:p.Gly214Arg
ENST00000697311.1:c.640G>C	ENSP00000513246.1:p.Gly214Arg
ENST00000697312.1:c.*38G>C	ENSP00000513247.1:n.*38G>C
ENST00000697313.1:n.2431G>C
ENST00000697314.1:n.2431G>C
ENST00000697315.1:c.640G>C	ENSP00000513248.1:p.Gly214Arg
ENST00000697316.1:n.761G>C
ENST00000697317.1:n.750G>C
ENST00000697318.1:n.752G>C
ENST00000265433.8:c.640G>C MANE Select	ENSP00000265433.4:p.Gly214Arg
ENST00000265433.7:c.640G>C	ENSP00000265433.3:p.Gly214Arg
ENST00000396252.6:c.*513G>C	ENSP00000379551.2:n.*513G>C
ENST00000409330.5:c.394G>C	ENSP00000386924.1:p.Gly132Arg
ENST00000517772.5:c.394G>C	ENSP00000428717.1:p.Gly132Arg
ENST00000519426.5:c.376G>C	ENSP00000430983.1:p.Gly126Arg
NM_001024688.2:c.394G>C	NP_001019859.1:p.Gly132Arg
NM_002485.4:c.640G>C , LRG_158t1:c.640G>C	NP_002476.2:p.Gly214Arg
XM_011517044.1:c.616G>C	XP_011515346.1:p.Gly206Arg
XM_011517045.1:c.394G>C	XP_011515347.1:p.Gly132Arg
XM_011517046.1:c.640G>C	XP_011515348.1:p.Gly214Arg
XR_928335.1:n.777G>C
XM_017013460.1:c.-240G>C	XP_016868949.1:n.-240G>C
XM_017013462.2:c.-240G>C	XP_016868951.1:n.-240G>C
XM_024447163.1:c.394G>C	XP_024302931.1:p.Gly132Arg
XM_024447164.1:c.394G>C	XP_024302932.1:p.Gly132Arg
XM_024447165.1:c.-240G>C	XP_024302933.1:n.-240G>C
NM_002485.5:c.640G>C MANE Select	NP_002476.2:p.Gly214Arg
NM_001024688.3:c.394G>C	NP_001019859.1:p.Gly132Arg