Canonical Allele Identifier: CA371655355

Gene: NBN

Linked Data

• ClinVar Variation Id: 2160601
• ClinVar RCV Id: RCV003076037
• dbSNP Id: rs1286743873
• gnomAD v4: 8-89953419-G-T
• MyVariant Identifiers: chr8:g.90965647G>T (hg19) ; chr8:g.89953419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953419G>T , CM000670.2:g.89953419G>T	GRCh38
NC_000008.10:g.90965647G>T , CM000670.1:g.90965647G>T	GRCh37
NC_000008.9:g.91034823G>T	NCBI36
NG_008860.1:g.36253C>A , LRG_158:g.36253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2972C>A
ENST00000517337.2:c.1424C>A	ENSP00000429971.2:p.Ala475Asp
ENST00000523444.2:c.1424C>A	ENSP00000428252.2:p.Ala475Asp
ENST00000697292.1:c.1670C>A	ENSP00000513229.1:p.Ala557Asp
ENST00000697293.1:c.1670C>A	ENSP00000513230.1:p.Ala557Asp
ENST00000697294.1:c.*1281C>A	ENSP00000513231.1:n.*1281C>A
ENST00000697295.1:c.*979C>A	ENSP00000513232.1:n.*979C>A
ENST00000697296.1:c.*1338C>A	ENSP00000513233.1:n.*1338C>A
ENST00000697297.1:n.3455C>A
ENST00000697298.1:c.1424C>A	ENSP00000513234.1:p.Ala475Asp
ENST00000697299.1:c.1424C>A	ENSP00000513235.1:p.Ala475Asp
ENST00000697300.1:c.*1274C>A	ENSP00000513236.1:n.*1274C>A
ENST00000697301.1:c.*1191C>A	ENSP00000513237.1:n.*1191C>A
ENST00000697302.1:c.*1191C>A	ENSP00000513238.1:n.*1191C>A
ENST00000697303.1:c.*1274C>A	ENSP00000513239.1:n.*1274C>A
ENST00000697304.1:c.1358C>A	ENSP00000513240.1:p.Ala453Asp
ENST00000697306.1:c.*670C>A	ENSP00000513241.1:n.*670C>A
ENST00000697307.1:c.1670C>A	ENSP00000513242.1:p.Ala557Asp
ENST00000697308.1:c.1670C>A	ENSP00000513243.1:p.Ala557Asp
ENST00000697309.1:c.1670C>A	ENSP00000513244.1:p.Ala557Asp
ENST00000697310.1:c.1670C>A	ENSP00000513245.1:p.Ala557Asp
ENST00000697311.1:c.1670C>A	ENSP00000513246.1:p.Ala557Asp
ENST00000697312.1:c.*1068C>A	ENSP00000513247.1:n.*1068C>A
ENST00000697313.1:n.2687+16945C>A
ENST00000697314.1:n.3461C>A
ENST00000697315.1:c.1670C>A	ENSP00000513248.1:p.Ala557Asp
ENST00000697316.1:n.1791C>A
ENST00000697317.1:n.1780C>A
ENST00000697318.1:n.1782C>A
ENST00000265433.8:c.1670C>A MANE Select	ENSP00000265433.4:p.Ala557Asp
ENST00000265433.7:c.1670C>A	ENSP00000265433.3:p.Ala557Asp
ENST00000396252.6:c.*1543C>A	ENSP00000379551.2:n.*1543C>A
ENST00000409330.5:c.1424C>A	ENSP00000386924.1:p.Ala475Asp
NM_001024688.2:c.1424C>A	NP_001019859.1:p.Ala475Asp
NM_002485.4:c.1670C>A , LRG_158t1:c.1670C>A	NP_002476.2:p.Ala557Asp
XM_011517044.1:c.1646C>A	XP_011515346.1:p.Ala549Asp
XM_011517045.1:c.1424C>A	XP_011515347.1:p.Ala475Asp
XR_928335.1:n.1809C>A
XM_017013460.1:c.791C>A	XP_016868949.1:p.Ala264Asp
XM_017013462.2:c.791C>A	XP_016868951.1:p.Ala264Asp
XM_024447163.1:c.1424C>A	XP_024302931.1:p.Ala475Asp
XM_024447164.1:c.1424C>A	XP_024302932.1:p.Ala475Asp
XM_024447165.1:c.791C>A	XP_024302933.1:p.Ala264Asp
NM_002485.5:c.1670C>A MANE Select	NP_002476.2:p.Ala557Asp
NM_001024688.3:c.1424C>A	NP_001019859.1:p.Ala475Asp