Canonical Allele Identifier: CA371658277

Gene: NBN

Linked Data

• ClinVar Variation Id: 1446553
• ClinVar RCV Id: RCV001958530
• dbSNP Id: rs786202939
• MyVariant Identifiers: chr8:g.90982615C>G (hg19) ; chr8:g.89970387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970387C>G , CM000670.2:g.89970387C>G	GRCh38
NC_000008.10:g.90982615C>G , CM000670.1:g.90982615C>G	GRCh37
NC_000008.9:g.91051791C>G	NCBI36
NG_008860.1:g.19285G>C , LRG_158:g.19285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2175G>C
ENST00000517337.2:c.627G>C	ENSP00000429971.2:p.Gln209His
ENST00000523444.2:c.627G>C	ENSP00000428252.2:p.Gln209His
ENST00000697292.1:c.873G>C	ENSP00000513229.1:p.Gln291His
ENST00000697293.1:c.873G>C	ENSP00000513230.1:p.Gln291His
ENST00000697294.1:c.*484G>C	ENSP00000513231.1:n.*484G>C
ENST00000697295.1:c.*182G>C	ENSP00000513232.1:n.*182G>C
ENST00000697296.1:c.*541G>C	ENSP00000513233.1:n.*541G>C
ENST00000697297.1:n.2658G>C
ENST00000697298.1:c.627G>C	ENSP00000513234.1:p.Gln209His
ENST00000697299.1:c.627G>C	ENSP00000513235.1:p.Gln209His
ENST00000697300.1:c.*477G>C	ENSP00000513236.1:n.*477G>C
ENST00000697301.1:c.*394G>C	ENSP00000513237.1:n.*394G>C
ENST00000697302.1:c.*394G>C	ENSP00000513238.1:n.*394G>C
ENST00000697303.1:c.*477G>C	ENSP00000513239.1:n.*477G>C
ENST00000697304.1:c.585-5880G>C	ENSP00000513240.1:n.585-5880G>C
ENST00000697306.1:c.480+10347G>C	ENSP00000513241.1:n.480+10347G>C
ENST00000697307.1:c.873G>C	ENSP00000513242.1:p.Gln291His
ENST00000697308.1:c.873G>C	ENSP00000513243.1:p.Gln291His
ENST00000697309.1:c.873G>C	ENSP00000513244.1:p.Gln291His
ENST00000697310.1:c.873G>C	ENSP00000513245.1:p.Gln291His
ENST00000697311.1:c.873G>C	ENSP00000513246.1:p.Gln291His
ENST00000697312.1:c.*271G>C	ENSP00000513247.1:n.*271G>C
ENST00000697313.1:n.2664G>C
ENST00000697314.1:n.2664G>C
ENST00000697315.1:c.873G>C	ENSP00000513248.1:p.Gln291His
ENST00000697316.1:n.994G>C
ENST00000697317.1:n.983G>C
ENST00000697318.1:n.985G>C
ENST00000265433.8:c.873G>C MANE Select	ENSP00000265433.4:p.Gln291His
ENST00000265433.7:c.873G>C	ENSP00000265433.3:p.Gln291His
ENST00000396252.6:c.*746G>C	ENSP00000379551.2:n.*746G>C
ENST00000409330.5:c.627G>C	ENSP00000386924.1:p.Gln209His
NM_001024688.2:c.627G>C	NP_001019859.1:p.Gln209His
NM_002485.4:c.873G>C , LRG_158t1:c.873G>C	NP_002476.2:p.Gln291His
XM_011517044.1:c.849G>C	XP_011515346.1:p.Gln283His
XM_011517045.1:c.627G>C	XP_011515347.1:p.Gln209His
XM_011517046.1:c.873G>C	XP_011515348.1:p.Gln291His
XR_928335.1:n.1010G>C
XM_017013460.1:c.-7G>C	XP_016868949.1:n.-7G>C
XM_017013462.2:c.-7G>C	XP_016868951.1:n.-7G>C
XM_024447163.1:c.627G>C	XP_024302931.1:p.Gln209His
XM_024447164.1:c.627G>C	XP_024302932.1:p.Gln209His
XM_024447165.1:c.-7G>C	XP_024302933.1:n.-7G>C
NM_002485.5:c.873G>C MANE Select	NP_002476.2:p.Gln291His
NM_001024688.3:c.627G>C	NP_001019859.1:p.Gln209His