Canonical Allele Identifier: CA191151

Gene: NBN

Linked Data

• ClinVar Variation Id: 185147
• ClinVar RCV Id: RCV000164516 ; RCV000229453 ; RCV001697157
• dbSNP Id: rs372705975
• ExAC: 8:90983440 G / A
• gnomAD v2: 8-90983440-G-A
• gnomAD v3: 8-89971212-G-A
• gnomAD v4: 8-89971212-G-A
• MyVariant Identifiers: chr8:g.90983440G>A (hg19) ; chr8:g.89971212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971212G>A , CM000670.2:g.89971212G>A	GRCh38
NC_000008.10:g.90983440G>A , CM000670.1:g.90983440G>A	GRCh37
NC_000008.9:g.91052616G>A	NCBI36
NG_008860.1:g.18460C>T , LRG_158:g.18460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1965C>T
ENST00000517337.2:c.417C>T	ENSP00000429971.2:p.Ile139=
ENST00000523444.2:c.417C>T	ENSP00000428252.2:p.Ile139=
ENST00000697292.1:c.663C>T	ENSP00000513229.1:p.Ile221=
ENST00000697293.1:c.663C>T	ENSP00000513230.1:p.Ile221=
ENST00000697294.1:c.*274C>T	ENSP00000513231.1:n.*274C>T
ENST00000697295.1:c.116C>T	ENSP00000513232.1:p.Ser39Phe
ENST00000697296.1:c.*331C>T	ENSP00000513233.1:n.*331C>T
ENST00000697297.1:n.2448C>T
ENST00000697298.1:c.417C>T	ENSP00000513234.1:p.Ile139=
ENST00000697299.1:c.417C>T	ENSP00000513235.1:p.Ile139=
ENST00000697300.1:c.*267C>T	ENSP00000513236.1:n.*267C>T
ENST00000697301.1:c.*184C>T	ENSP00000513237.1:n.*184C>T
ENST00000697302.1:c.*184C>T	ENSP00000513238.1:n.*184C>T
ENST00000697303.1:c.*267C>T	ENSP00000513239.1:n.*267C>T
ENST00000697304.1:c.585-6705C>T	ENSP00000513240.1:n.585-6705C>T
ENST00000697306.1:c.480+9522C>T	ENSP00000513241.1:n.480+9522C>T
ENST00000697307.1:c.663C>T	ENSP00000513242.1:p.Ile221=
ENST00000697308.1:c.663C>T	ENSP00000513243.1:p.Ile221=
ENST00000697309.1:c.663C>T	ENSP00000513244.1:p.Ile221=
ENST00000697310.1:c.663C>T	ENSP00000513245.1:p.Ile221=
ENST00000697311.1:c.663C>T	ENSP00000513246.1:p.Ile221=
ENST00000697312.1:c.*61C>T	ENSP00000513247.1:n.*61C>T
ENST00000697313.1:n.2454C>T
ENST00000697314.1:n.2454C>T
ENST00000697315.1:c.663C>T	ENSP00000513248.1:p.Ile221=
ENST00000697316.1:n.784C>T
ENST00000697317.1:n.773C>T
ENST00000697318.1:n.775C>T
ENST00000265433.8:c.663C>T MANE Select	ENSP00000265433.4:p.Ile221=
ENST00000265433.7:c.663C>T	ENSP00000265433.3:p.Ile221=
ENST00000396252.6:c.*536C>T	ENSP00000379551.2:n.*536C>T
ENST00000409330.5:c.417C>T	ENSP00000386924.1:p.Ile139=
ENST00000517772.5:c.417C>T	ENSP00000428717.1:p.Ile139=
ENST00000519426.5:c.399C>T	ENSP00000430983.1:p.Ile133=
NM_001024688.2:c.417C>T	NP_001019859.1:p.Ile139=
NM_002485.4:c.663C>T , LRG_158t1:c.663C>T	NP_002476.2:p.Ile221=
XM_011517044.1:c.639C>T	XP_011515346.1:p.Ile213=
XM_011517045.1:c.417C>T	XP_011515347.1:p.Ile139=
XM_011517046.1:c.663C>T	XP_011515348.1:p.Ile221=
XR_928335.1:n.800C>T
XM_017013460.1:c.-217C>T	XP_016868949.1:n.-217C>T
XM_017013462.2:c.-217C>T	XP_016868951.1:n.-217C>T
XM_024447163.1:c.417C>T	XP_024302931.1:p.Ile139=
XM_024447164.1:c.417C>T	XP_024302932.1:p.Ile139=
XM_024447165.1:c.-217C>T	XP_024302933.1:n.-217C>T
NM_002485.5:c.663C>T MANE Select	NP_002476.2:p.Ile221=
NM_001024688.3:c.417C>T	NP_001019859.1:p.Ile139=