Canonical Allele Identifier: CA418709238

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1607098
• ClinVar RCV Id: RCV002139653
• dbSNP Id: rs2102094631
• gnomAD v4: 1-77918207-C-A
• MyVariant Identifiers: chr1:g.78383892C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77918207C>A , CM000663.2:g.77918207C>A	GRCh38
NC_000001.10:g.78383892C>A , CM000663.1:g.78383892C>A	GRCh37
NC_000001.9:g.78156480C>A	NCBI36
NG_016625.1:g.34693C>A , LRG_442:g.34693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.381C>A MANE Select	ENSP00000333938.7:p.Arg127=
ENST00000330010.12:c.189C>A	ENSP00000327363.8:p.Arg63=
ENST00000334785.11:c.381C>A	ENSP00000333938.7:p.Arg127=
ENST00000342754.5:c.80C>A
ENST00000401035.7:c.189C>A	ENSP00000383814.3:p.Arg63=
ENST00000440324.5:c.381C>A	ENSP00000411902.1:p.Arg127=
NM_001172309.1:c.189C>A	NP_001165780.1:p.Arg63=
NM_144573.3:c.381C>A , LRG_442t1:c.381C>A	NP_653174.3:p.Arg127=
XM_005271322.2:c.381C>A	XP_005271379.1:p.Arg127=
XM_005271323.2:c.381C>A	XP_005271380.1:p.Arg127=
XM_005271324.3:c.189C>A	XP_005271381.1:p.Arg63=
XM_005271325.2:c.381C>A	XP_005271382.1:p.Arg127=
XM_005271326.2:c.189C>A	XP_005271383.1:p.Arg63=
XM_005271327.2:c.381C>A	XP_005271384.1:p.Arg127=
XM_005271322.4:c.381C>A	XP_005271379.1:p.Arg127=
XM_005271323.4:c.381C>A	XP_005271380.1:p.Arg127=
XM_005271324.5:c.189C>A	XP_005271381.1:p.Arg63=
XM_005271325.4:c.381C>A	XP_005271382.1:p.Arg127=
XM_005271326.4:c.189C>A	XP_005271383.1:p.Arg63=
XM_005271327.4:c.381C>A	XP_005271384.1:p.Arg127=
NM_001172309.2:c.189C>A	NP_001165780.1:p.Arg63=
NM_144573.4:c.381C>A MANE Select	NP_653174.3:p.Arg127=