Canonical Allele Identifier: CA190135

Gene: NBN

Linked Data

• ClinVar Variation Id: 184816
• ClinVar RCV Id: RCV000164141 ; RCV000197233 ; RCV001354892 ; RCV003467286
• dbSNP Id: rs143948240
• ExAC: 8:90965852 G / C
• gnomAD v2: 8-90965852-G-C
• gnomAD v3: 8-89953624-G-C
• gnomAD v4: 8-89953624-G-C
• MyVariant Identifiers: chr8:g.90965852G>C (hg19) ; chr8:g.89953624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953624G>C , CM000670.2:g.89953624G>C	GRCh38
NC_000008.10:g.90965852G>C , CM000670.1:g.90965852G>C	GRCh37
NC_000008.9:g.91035028G>C	NCBI36
NG_008860.1:g.36048C>G , LRG_158:g.36048C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2767C>G
ENST00000517337.2:c.1219C>G	ENSP00000429971.2:p.Leu407Val
ENST00000523444.2:c.1219C>G	ENSP00000428252.2:p.Leu407Val
ENST00000697292.1:c.1465C>G	ENSP00000513229.1:p.Leu489Val
ENST00000697293.1:c.1465C>G	ENSP00000513230.1:p.Leu489Val
ENST00000697294.1:c.*1076C>G	ENSP00000513231.1:n.*1076C>G
ENST00000697295.1:c.*774C>G	ENSP00000513232.1:n.*774C>G
ENST00000697296.1:c.*1133C>G	ENSP00000513233.1:n.*1133C>G
ENST00000697297.1:n.3250C>G
ENST00000697298.1:c.1219C>G	ENSP00000513234.1:p.Leu407Val
ENST00000697299.1:c.1219C>G	ENSP00000513235.1:p.Leu407Val
ENST00000697300.1:c.*1069C>G	ENSP00000513236.1:n.*1069C>G
ENST00000697301.1:c.*986C>G	ENSP00000513237.1:n.*986C>G
ENST00000697302.1:c.*986C>G	ENSP00000513238.1:n.*986C>G
ENST00000697303.1:c.*1069C>G	ENSP00000513239.1:n.*1069C>G
ENST00000697304.1:c.1153C>G	ENSP00000513240.1:p.Leu385Val
ENST00000697306.1:c.*465C>G	ENSP00000513241.1:n.*465C>G
ENST00000697307.1:c.1465C>G	ENSP00000513242.1:p.Leu489Val
ENST00000697308.1:c.1465C>G	ENSP00000513243.1:p.Leu489Val
ENST00000697309.1:c.1465C>G	ENSP00000513244.1:p.Leu489Val
ENST00000697310.1:c.1465C>G	ENSP00000513245.1:p.Leu489Val
ENST00000697311.1:c.1465C>G	ENSP00000513246.1:p.Leu489Val
ENST00000697312.1:c.*863C>G	ENSP00000513247.1:n.*863C>G
ENST00000697313.1:n.2687+16740C>G
ENST00000697314.1:n.3256C>G
ENST00000697315.1:c.1465C>G	ENSP00000513248.1:p.Leu489Val
ENST00000697316.1:n.1586C>G
ENST00000697317.1:n.1575C>G
ENST00000697318.1:n.1577C>G
ENST00000265433.8:c.1465C>G MANE Select	ENSP00000265433.4:p.Leu489Val
ENST00000265433.7:c.1465C>G	ENSP00000265433.3:p.Leu489Val
ENST00000396252.6:c.*1338C>G	ENSP00000379551.2:n.*1338C>G
ENST00000409330.5:c.1219C>G	ENSP00000386924.1:p.Leu407Val
NM_001024688.2:c.1219C>G	NP_001019859.1:p.Leu407Val
NM_002485.4:c.1465C>G , LRG_158t1:c.1465C>G	NP_002476.2:p.Leu489Val
XM_011517044.1:c.1441C>G	XP_011515346.1:p.Leu481Val
XM_011517045.1:c.1219C>G	XP_011515347.1:p.Leu407Val
XR_928335.1:n.1604C>G
XM_017013460.1:c.586C>G	XP_016868949.1:p.Leu196Val
XM_017013462.2:c.586C>G	XP_016868951.1:p.Leu196Val
XM_024447163.1:c.1219C>G	XP_024302931.1:p.Leu407Val
XM_024447164.1:c.1219C>G	XP_024302932.1:p.Leu407Val
XM_024447165.1:c.586C>G	XP_024302933.1:p.Leu196Val
NM_002485.5:c.1465C>G MANE Select	NP_002476.2:p.Leu489Val
NM_001024688.3:c.1219C>G	NP_001019859.1:p.Leu407Val