Canonical Allele Identifier: CA918630

Gene: NEXN

Linked Data

• ClinVar Variation Id: 806155
• ClinVar RCV Id: RCV000994028 ; RCV001799019 ; RCV001858780 ; RCV004030163
• dbSNP Id: rs776891268
• ExAC: 1:78383891 G / A
• gnomAD v2: 1-78383891-G-A
• gnomAD v3: 1-77918206-G-A
• gnomAD v4: 1-77918206-G-A
• COSMIC: COSM536311 ; COSM6064270
• MyVariant Identifiers: chr1:g.78383891G>A (hg19) ; chr1:g.77918206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77918206G>A , CM000663.2:g.77918206G>A	GRCh38
NC_000001.10:g.78383891G>A , CM000663.1:g.78383891G>A	GRCh37
NC_000001.9:g.78156479G>A	NCBI36
NG_016625.1:g.34692G>A , LRG_442:g.34692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.380G>A MANE Select	ENSP00000333938.7:p.Arg127His
ENST00000330010.12:c.188G>A	ENSP00000327363.8:p.Arg63His
ENST00000334785.11:c.380G>A	ENSP00000333938.7:p.Arg127His
ENST00000342754.5:c.79G>A
ENST00000401035.7:c.188G>A	ENSP00000383814.3:p.Arg63His
ENST00000440324.5:c.380G>A	ENSP00000411902.1:p.Arg127His
NM_001172309.1:c.188G>A	NP_001165780.1:p.Arg63His
NM_144573.3:c.380G>A , LRG_442t1:c.380G>A	NP_653174.3:p.Arg127His
XM_005271322.2:c.380G>A	XP_005271379.1:p.Arg127His
XM_005271323.2:c.380G>A	XP_005271380.1:p.Arg127His
XM_005271324.3:c.188G>A	XP_005271381.1:p.Arg63His
XM_005271325.2:c.380G>A	XP_005271382.1:p.Arg127His
XM_005271326.2:c.188G>A	XP_005271383.1:p.Arg63His
XM_005271327.2:c.380G>A	XP_005271384.1:p.Arg127His
XM_005271322.4:c.380G>A	XP_005271379.1:p.Arg127His
XM_005271323.4:c.380G>A	XP_005271380.1:p.Arg127His
XM_005271324.5:c.188G>A	XP_005271381.1:p.Arg63His
XM_005271325.4:c.380G>A	XP_005271382.1:p.Arg127His
XM_005271326.4:c.188G>A	XP_005271383.1:p.Arg63His
XM_005271327.4:c.380G>A	XP_005271384.1:p.Arg127His
NM_001172309.2:c.188G>A	NP_001165780.1:p.Arg63His
NM_144573.4:c.380G>A MANE Select	NP_653174.3:p.Arg127His