Canonical Allele Identifier: CA194828

Gene: NBN

Linked Data

• ClinVar Variation Id: 186444
• ClinVar RCV Id: RCV000166036 ; RCV000475863 ; RCV001711445
• dbSNP Id: rs745821999
• ExAC: 8:90983515 A / G
• gnomAD v2: 8-90983515-A-G
• gnomAD v4: 8-89971287-A-G
• MyVariant Identifiers: chr8:g.90983515A>G (hg19) ; chr8:g.89971287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971287A>G , CM000670.2:g.89971287A>G	GRCh38
NC_000008.10:g.90983515A>G , CM000670.1:g.90983515A>G	GRCh37
NC_000008.9:g.91052691A>G	NCBI36
NG_008860.1:g.18385T>C , LRG_158:g.18385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1890T>C
ENST00000517337.2:c.342T>C	ENSP00000429971.2:p.Phe114=
ENST00000523444.2:c.342T>C	ENSP00000428252.2:p.Phe114=
ENST00000697292.1:c.588T>C	ENSP00000513229.1:p.Phe196=
ENST00000697293.1:c.588T>C	ENSP00000513230.1:p.Phe196=
ENST00000697294.1:c.*199T>C	ENSP00000513231.1:n.*199T>C
ENST00000697295.1:c.41T>C	ENSP00000513232.1:p.Phe14Ser
ENST00000697296.1:c.*256T>C	ENSP00000513233.1:n.*256T>C
ENST00000697297.1:n.2373T>C
ENST00000697298.1:c.342T>C	ENSP00000513234.1:p.Phe114=
ENST00000697299.1:c.342T>C	ENSP00000513235.1:p.Phe114=
ENST00000697300.1:c.*192T>C	ENSP00000513236.1:n.*192T>C
ENST00000697301.1:c.*109T>C	ENSP00000513237.1:n.*109T>C
ENST00000697302.1:c.*109T>C	ENSP00000513238.1:n.*109T>C
ENST00000697303.1:c.*192T>C	ENSP00000513239.1:n.*192T>C
ENST00000697304.1:c.585-6780T>C	ENSP00000513240.1:n.585-6780T>C
ENST00000697306.1:c.480+9447T>C	ENSP00000513241.1:n.480+9447T>C
ENST00000697307.1:c.588T>C	ENSP00000513242.1:p.Phe196=
ENST00000697308.1:c.588T>C	ENSP00000513243.1:p.Phe196=
ENST00000697309.1:c.588T>C	ENSP00000513244.1:p.Phe196=
ENST00000697310.1:c.588T>C	ENSP00000513245.1:p.Phe196=
ENST00000697311.1:c.588T>C	ENSP00000513246.1:p.Phe196=
ENST00000697312.1:c.484T>C	ENSP00000513247.1:p.Leu162=
ENST00000697313.1:n.2379T>C
ENST00000697314.1:n.2379T>C
ENST00000697315.1:c.588T>C	ENSP00000513248.1:p.Phe196=
ENST00000697316.1:n.709T>C
ENST00000697317.1:n.698T>C
ENST00000697318.1:n.700T>C
ENST00000265433.8:c.588T>C MANE Select	ENSP00000265433.4:p.Phe196=
ENST00000265433.7:c.588T>C	ENSP00000265433.3:p.Phe196=
ENST00000396252.6:c.*461T>C	ENSP00000379551.2:n.*461T>C
ENST00000409330.5:c.342T>C	ENSP00000386924.1:p.Phe114=
ENST00000517772.5:c.342T>C	ENSP00000428717.1:p.Phe114=
ENST00000519426.5:c.324T>C	ENSP00000430983.1:p.Phe108=
NM_001024688.2:c.342T>C	NP_001019859.1:p.Phe114=
NM_002485.4:c.588T>C , LRG_158t1:c.588T>C	NP_002476.2:p.Phe196=
XM_011517044.1:c.564T>C	XP_011515346.1:p.Phe188=
XM_011517045.1:c.342T>C	XP_011515347.1:p.Phe114=
XM_011517046.1:c.588T>C	XP_011515348.1:p.Phe196=
XR_928335.1:n.725T>C
XM_017013460.1:c.-292T>C	XP_016868949.1:n.-292T>C
XM_017013462.2:c.-292T>C	XP_016868951.1:n.-292T>C
XM_024447163.1:c.342T>C	XP_024302931.1:p.Phe114=
XM_024447164.1:c.342T>C	XP_024302932.1:p.Phe114=
XM_024447165.1:c.-292T>C	XP_024302933.1:n.-292T>C
NM_002485.5:c.588T>C MANE Select	NP_002476.2:p.Phe196=
NM_001024688.3:c.342T>C	NP_001019859.1:p.Phe114=