Canonical Allele Identifier: CA918867

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1771371
• ClinVar RCV Id: RCV002396505
• dbSNP Id: rs750637324
• ExAC: 1:78401641 A / T
• gnomAD v2: 1-78401641-A-T
• gnomAD v4: 1-77935956-A-T
• MyVariant Identifiers: chr1:g.78401641A>T (hg19) ; chr1:g.77935956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935956A>T , CM000663.2:g.77935956A>T	GRCh38
NC_000001.10:g.78401641A>T , CM000663.1:g.78401641A>T	GRCh37
NC_000001.9:g.78174229A>T	NCBI36
NG_016625.1:g.52442A>T , LRG_442:g.52442A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1385A>T MANE Select	ENSP00000333938.7:p.Glu462Val
ENST00000330010.12:c.1193A>T	ENSP00000327363.8:p.Glu398Val
ENST00000334785.11:c.1385A>T	ENSP00000333938.7:p.Glu462Val
ENST00000342754.5:c.1084A>T
ENST00000464998.1:n.845A>T
ENST00000480732.2:n.959A>T
NM_001172309.1:c.1193A>T	NP_001165780.1:p.Glu398Val
NM_144573.3:c.1385A>T , LRG_442t1:c.1385A>T	NP_653174.3:p.Glu462Val
XM_005271322.2:c.1385A>T	XP_005271379.1:p.Glu462Val
XM_005271323.2:c.1343A>T	XP_005271380.1:p.Glu448Val
XM_005271324.3:c.1193A>T	XP_005271381.1:p.Glu398Val
XM_005271325.2:c.1251+2477A>T	XP_005271382.1:n.1251+2477A>T
XM_005271326.2:c.1151A>T	XP_005271383.1:p.Glu384Val
XM_005271327.2:c.968A>T	XP_005271384.1:p.Glu323Val
XM_005271322.4:c.1385A>T	XP_005271379.1:p.Glu462Val
XM_005271323.4:c.1343A>T	XP_005271380.1:p.Glu448Val
XM_005271324.5:c.1193A>T	XP_005271381.1:p.Glu398Val
XM_005271325.4:c.1251+2477A>T	XP_005271382.1:n.1251+2477A>T
XM_005271326.4:c.1151A>T	XP_005271383.1:p.Glu384Val
XM_005271327.4:c.968A>T	XP_005271384.1:p.Glu323Val
NM_001172309.2:c.1193A>T	NP_001165780.1:p.Glu398Val
NM_144573.4:c.1385A>T MANE Select	NP_653174.3:p.Glu462Val