Canonical Allele Identifier: CA16612477

Gene: NBN

Linked Data

• ClinVar Variation Id: 411763
• ClinVar RCV Id: RCV000473379 ; RCV001011702
• dbSNP Id: rs1060503472
• gnomAD v4: 8-89953626-G-C
• MyVariant Identifiers: chr8:g.90965854G>C (hg19) ; chr8:g.89953626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953626G>C , CM000670.2:g.89953626G>C	GRCh38
NC_000008.10:g.90965854G>C , CM000670.1:g.90965854G>C	GRCh37
NC_000008.9:g.91035030G>C	NCBI36
NG_008860.1:g.36046C>G , LRG_158:g.36046C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2765C>G
ENST00000517337.2:c.1217C>G	ENSP00000429971.2:p.Ser406Cys
ENST00000523444.2:c.1217C>G	ENSP00000428252.2:p.Ser406Cys
ENST00000697292.1:c.1463C>G	ENSP00000513229.1:p.Ser488Cys
ENST00000697293.1:c.1463C>G	ENSP00000513230.1:p.Ser488Cys
ENST00000697294.1:c.*1074C>G	ENSP00000513231.1:n.*1074C>G
ENST00000697295.1:c.*772C>G	ENSP00000513232.1:n.*772C>G
ENST00000697296.1:c.*1131C>G	ENSP00000513233.1:n.*1131C>G
ENST00000697297.1:n.3248C>G
ENST00000697298.1:c.1217C>G	ENSP00000513234.1:p.Ser406Cys
ENST00000697299.1:c.1217C>G	ENSP00000513235.1:p.Ser406Cys
ENST00000697300.1:c.*1067C>G	ENSP00000513236.1:n.*1067C>G
ENST00000697301.1:c.*984C>G	ENSP00000513237.1:n.*984C>G
ENST00000697302.1:c.*984C>G	ENSP00000513238.1:n.*984C>G
ENST00000697303.1:c.*1067C>G	ENSP00000513239.1:n.*1067C>G
ENST00000697304.1:c.1151C>G	ENSP00000513240.1:p.Ser384Cys
ENST00000697306.1:c.*463C>G	ENSP00000513241.1:n.*463C>G
ENST00000697307.1:c.1463C>G	ENSP00000513242.1:p.Ser488Cys
ENST00000697308.1:c.1463C>G	ENSP00000513243.1:p.Ser488Cys
ENST00000697309.1:c.1463C>G	ENSP00000513244.1:p.Ser488Cys
ENST00000697310.1:c.1463C>G	ENSP00000513245.1:p.Ser488Cys
ENST00000697311.1:c.1463C>G	ENSP00000513246.1:p.Ser488Cys
ENST00000697312.1:c.*861C>G	ENSP00000513247.1:n.*861C>G
ENST00000697313.1:n.2687+16738C>G
ENST00000697314.1:n.3254C>G
ENST00000697315.1:c.1463C>G	ENSP00000513248.1:p.Ser488Cys
ENST00000697316.1:n.1584C>G
ENST00000697317.1:n.1573C>G
ENST00000697318.1:n.1575C>G
ENST00000265433.8:c.1463C>G MANE Select	ENSP00000265433.4:p.Ser488Cys
ENST00000265433.7:c.1463C>G	ENSP00000265433.3:p.Ser488Cys
ENST00000396252.6:c.*1336C>G	ENSP00000379551.2:n.*1336C>G
ENST00000409330.5:c.1217C>G	ENSP00000386924.1:p.Ser406Cys
NM_001024688.2:c.1217C>G	NP_001019859.1:p.Ser406Cys
NM_002485.4:c.1463C>G , LRG_158t1:c.1463C>G	NP_002476.2:p.Ser488Cys
XM_011517044.1:c.1439C>G	XP_011515346.1:p.Ser480Cys
XM_011517045.1:c.1217C>G	XP_011515347.1:p.Ser406Cys
XR_928335.1:n.1602C>G
XM_017013460.1:c.584C>G	XP_016868949.1:p.Ser195Cys
XM_017013462.2:c.584C>G	XP_016868951.1:p.Ser195Cys
XM_024447163.1:c.1217C>G	XP_024302931.1:p.Ser406Cys
XM_024447164.1:c.1217C>G	XP_024302932.1:p.Ser406Cys
XM_024447165.1:c.584C>G	XP_024302933.1:p.Ser195Cys
NM_002485.5:c.1463C>G MANE Select	NP_002476.2:p.Ser488Cys
NM_001024688.3:c.1217C>G	NP_001019859.1:p.Ser406Cys