Canonical Allele Identifier: CA371658323

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90982622C>G (hg19) ; chr8:g.89970394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970394C>G , CM000670.2:g.89970394C>G	GRCh38
NC_000008.10:g.90982622C>G , CM000670.1:g.90982622C>G	GRCh37
NC_000008.9:g.91051798C>G	NCBI36
NG_008860.1:g.19278G>C , LRG_158:g.19278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2168G>C
ENST00000517337.2:c.620G>C	ENSP00000429971.2:p.Trp207Ser
ENST00000523444.2:c.620G>C	ENSP00000428252.2:p.Trp207Ser
ENST00000697292.1:c.866G>C	ENSP00000513229.1:p.Trp289Ser
ENST00000697293.1:c.866G>C	ENSP00000513230.1:p.Trp289Ser
ENST00000697294.1:c.*477G>C	ENSP00000513231.1:n.*477G>C
ENST00000697295.1:c.*175G>C	ENSP00000513232.1:n.*175G>C
ENST00000697296.1:c.*534G>C	ENSP00000513233.1:n.*534G>C
ENST00000697297.1:n.2651G>C
ENST00000697298.1:c.620G>C	ENSP00000513234.1:p.Trp207Ser
ENST00000697299.1:c.620G>C	ENSP00000513235.1:p.Trp207Ser
ENST00000697300.1:c.*470G>C	ENSP00000513236.1:n.*470G>C
ENST00000697301.1:c.*387G>C	ENSP00000513237.1:n.*387G>C
ENST00000697302.1:c.*387G>C	ENSP00000513238.1:n.*387G>C
ENST00000697303.1:c.*470G>C	ENSP00000513239.1:n.*470G>C
ENST00000697304.1:c.585-5887G>C	ENSP00000513240.1:n.585-5887G>C
ENST00000697306.1:c.480+10340G>C	ENSP00000513241.1:n.480+10340G>C
ENST00000697307.1:c.866G>C	ENSP00000513242.1:p.Trp289Ser
ENST00000697308.1:c.866G>C	ENSP00000513243.1:p.Trp289Ser
ENST00000697309.1:c.866G>C	ENSP00000513244.1:p.Trp289Ser
ENST00000697310.1:c.866G>C	ENSP00000513245.1:p.Trp289Ser
ENST00000697311.1:c.866G>C	ENSP00000513246.1:p.Trp289Ser
ENST00000697312.1:c.*264G>C	ENSP00000513247.1:n.*264G>C
ENST00000697313.1:n.2657G>C
ENST00000697314.1:n.2657G>C
ENST00000697315.1:c.866G>C	ENSP00000513248.1:p.Trp289Ser
ENST00000697316.1:n.987G>C
ENST00000697317.1:n.976G>C
ENST00000697318.1:n.978G>C
ENST00000265433.8:c.866G>C MANE Select	ENSP00000265433.4:p.Trp289Ser
ENST00000265433.7:c.866G>C	ENSP00000265433.3:p.Trp289Ser
ENST00000396252.6:c.*739G>C	ENSP00000379551.2:n.*739G>C
ENST00000409330.5:c.620G>C	ENSP00000386924.1:p.Trp207Ser
NM_001024688.2:c.620G>C	NP_001019859.1:p.Trp207Ser
NM_002485.4:c.866G>C , LRG_158t1:c.866G>C	NP_002476.2:p.Trp289Ser
XM_011517044.1:c.842G>C	XP_011515346.1:p.Trp281Ser
XM_011517045.1:c.620G>C	XP_011515347.1:p.Trp207Ser
XM_011517046.1:c.866G>C	XP_011515348.1:p.Trp289Ser
XR_928335.1:n.1003G>C
XM_017013460.1:c.-14G>C	XP_016868949.1:n.-14G>C
XM_017013462.2:c.-14G>C	XP_016868951.1:n.-14G>C
XM_024447163.1:c.620G>C	XP_024302931.1:p.Trp207Ser
XM_024447164.1:c.620G>C	XP_024302932.1:p.Trp207Ser
XM_024447165.1:c.-14G>C	XP_024302933.1:n.-14G>C
NM_002485.5:c.866G>C MANE Select	NP_002476.2:p.Trp289Ser
NM_001024688.3:c.620G>C	NP_001019859.1:p.Trp207Ser