Canonical Allele Identifier: CA4802589

Gene: NBN

Linked Data

• dbSNP Id: rs755536922
• ExAC: 8:90949288 C / A
• gnomAD v2: 8-90949288-C-A
• gnomAD v4: 8-89937060-C-A
• MyVariant Identifiers: chr8:g.90949288C>A (hg19) ; chr8:g.89937060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937060C>A , CM000670.2:g.89937060C>A	GRCh38
NC_000008.10:g.90949288C>A , CM000670.1:g.90949288C>A	GRCh37
NC_000008.9:g.91018464C>A	NCBI36
NG_008860.1:g.52612G>T , LRG_158:g.52612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3620G>T
ENST00000494804.2:n.3502G>T
ENST00000517337.2:c.1954G>T	ENSP00000429971.2:p.Ala652Ser
ENST00000523444.2:c.1954G>T	ENSP00000428252.2:p.Ala652Ser
ENST00000697292.1:c.2200G>T	ENSP00000513229.1:p.Ala734Ser
ENST00000697293.1:c.2251G>T	ENSP00000513230.1:p.Ala751Ser
ENST00000697294.1:c.*1811G>T	ENSP00000513231.1:n.*1811G>T
ENST00000697295.1:c.*1509G>T	ENSP00000513232.1:n.*1509G>T
ENST00000697296.1:c.*1868G>T	ENSP00000513233.1:n.*1868G>T
ENST00000697297.1:n.3985G>T
ENST00000697298.1:c.1954G>T	ENSP00000513234.1:p.Ala652Ser
ENST00000697299.1:c.1954G>T	ENSP00000513235.1:p.Ala652Ser
ENST00000697300.1:c.*1804G>T	ENSP00000513236.1:n.*1804G>T
ENST00000697301.1:c.*1721G>T	ENSP00000513237.1:n.*1721G>T
ENST00000697302.1:c.*1721G>T	ENSP00000513238.1:n.*1721G>T
ENST00000697303.1:c.*1804G>T	ENSP00000513239.1:n.*1804G>T
ENST00000697304.1:c.1888G>T	ENSP00000513240.1:p.Ala630Ser
ENST00000697305.1:n.2467G>T
ENST00000697306.1:c.*2751G>T	ENSP00000513241.1:n.*2751G>T
ENST00000697307.1:c.1975G>T	ENSP00000513242.1:p.Ala659Ser
ENST00000697308.1:c.2131G>T	ENSP00000513243.1:p.Ala711Ser
ENST00000697309.1:c.2185-1448G>T	ENSP00000513244.1:n.2185-1448G>T
ENST00000697310.1:c.2200G>T	ENSP00000513245.1:p.Ala734Ser
ENST00000697311.1:c.*465G>T	ENSP00000513246.1:n.*465G>T
ENST00000697312.1:c.*1653G>T	ENSP00000513247.1:n.*1653G>T
ENST00000697313.1:n.2688-1448G>T
ENST00000697314.1:n.3637-1448G>T
ENST00000697315.1:c.*104G>T	ENSP00000513248.1:n.*104G>T
ENST00000697316.1:n.2321G>T
ENST00000265433.8:c.2200G>T MANE Select	ENSP00000265433.4:p.Ala734Ser
ENST00000265433.7:c.2200G>T	ENSP00000265433.3:p.Ala734Ser
ENST00000396252.6:c.*2073G>T	ENSP00000379551.2:n.*2073G>T
ENST00000409330.5:c.1954G>T	ENSP00000386924.1:p.Ala652Ser
ENST00000474821.1:n.288G>T
ENST00000613033.1:c.310G>T	ENSP00000484487.1:p.Ala104Ser
NM_001024688.2:c.1954G>T	NP_001019859.1:p.Ala652Ser
NM_002485.4:c.2200G>T , LRG_158t1:c.2200G>T	NP_002476.2:p.Ala734Ser
XM_011517044.1:c.2176G>T	XP_011515346.1:p.Ala726Ser
XM_011517045.1:c.1954G>T	XP_011515347.1:p.Ala652Ser
XM_017013460.1:c.1321G>T	XP_016868949.1:p.Ala441Ser
XM_017013462.2:c.1321G>T	XP_016868951.1:p.Ala441Ser
XM_024447163.1:c.1954G>T	XP_024302931.1:p.Ala652Ser
XM_024447164.1:c.1954G>T	XP_024302932.1:p.Ala652Ser
XM_024447165.1:c.1321G>T	XP_024302933.1:p.Ala441Ser
NM_002485.5:c.2200G>T MANE Select	NP_002476.2:p.Ala734Ser
NM_001024688.3:c.1954G>T	NP_001019859.1:p.Ala652Ser