Canonical Allele Identifier: CA4803105

Gene: NBN

Linked Data

• ClinVar Variation Id: 383428
• ClinVar RCV Id: RCV000444539 ; RCV000561743 ; RCV000636819
• dbSNP Id: rs370050587
• ExAC: 8:90996769 G / C
• gnomAD v2: 8-90996769-G-C
• gnomAD v4: 8-89984541-G-C
• MyVariant Identifiers: chr8:g.90996769G>C (hg19) ; chr8:g.89984541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984541G>C , CM000670.2:g.89984541G>C	GRCh38
NC_000008.10:g.90996769G>C , CM000670.1:g.90996769G>C	GRCh37
NC_000008.9:g.91065945G>C	NCBI36
NG_008860.1:g.5131C>G , LRG_158:g.5131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.125C>G
ENST00000523444.2:c.-276C>G	ENSP00000428252.2:n.-276C>G
ENST00000697292.1:c.21C>G	ENSP00000513229.1:p.Ala7=
ENST00000697293.1:c.21C>G	ENSP00000513230.1:p.Ala7=
ENST00000697294.1:c.21C>G	ENSP00000513231.1:p.Ala7=
ENST00000697295.1:c.21C>G	ENSP00000513232.1:p.Ala7=
ENST00000697296.1:c.21C>G	ENSP00000513233.1:p.Ala7=
ENST00000697297.1:n.127C>G
ENST00000697298.1:c.-459C>G	ENSP00000513234.1:n.-459C>G
ENST00000697299.1:c.-92C>G	ENSP00000513235.1:n.-92C>G
ENST00000697300.1:c.-276C>G	ENSP00000513236.1:n.-276C>G
ENST00000697301.1:c.-276C>G	ENSP00000513237.1:n.-276C>G
ENST00000697302.1:c.21C>G	ENSP00000513238.1:p.Ala7=
ENST00000697303.1:c.21C>G	ENSP00000513239.1:p.Ala7=
ENST00000697304.1:c.21C>G	ENSP00000513240.1:p.Ala7=
ENST00000697306.1:c.21C>G	ENSP00000513241.1:p.Ala7=
ENST00000697307.1:c.21C>G	ENSP00000513242.1:p.Ala7=
ENST00000697308.1:c.21C>G	ENSP00000513243.1:p.Ala7=
ENST00000697309.1:c.21C>G	ENSP00000513244.1:p.Ala7=
ENST00000697310.1:c.21C>G	ENSP00000513245.1:p.Ala7=
ENST00000697311.1:c.21C>G	ENSP00000513246.1:p.Ala7=
ENST00000697312.1:c.21C>G	ENSP00000513247.1:p.Ala7=
ENST00000697313.1:n.133C>G
ENST00000697314.1:n.133C>G
ENST00000697315.1:c.21C>G	ENSP00000513248.1:p.Ala7=
ENST00000697316.1:n.142C>G
ENST00000697317.1:n.131C>G
ENST00000697318.1:n.133C>G
ENST00000265433.8:c.21C>G MANE Select	ENSP00000265433.4:p.Ala7=
ENST00000265433.7:c.21C>G	ENSP00000265433.3:p.Ala7=
ENST00000396252.6:c.21C>G	ENSP00000379551.2:p.Ala7=
ENST00000494804.1:n.125C>G
ENST00000519426.5:c.21C>G	ENSP00000430983.1:p.Ala7=
ENST00000523444.1:c.21C>G	ENSP00000428252.1:p.Ala7=
NM_001024688.2:c.-276C>G	NP_001019859.1:n.-276C>G
NM_002485.4:c.21C>G , LRG_158t1:c.21C>G	NP_002476.2:p.Ala7=
XM_011517046.1:c.21C>G	XP_011515348.1:p.Ala7=
XR_928335.1:n.158C>G
XM_017013460.1:c.-999C>G	XP_016868949.1:n.-999C>G
XM_017013462.2:c.-805C>G	XP_016868951.1:n.-805C>G
XM_024447165.1:c.-949C>G	XP_024302933.1:n.-949C>G
NM_002485.5:c.21C>G MANE Select	NP_002476.2:p.Ala7=
NM_001024688.3:c.-276C>G	NP_001019859.1:n.-276C>G