Canonical Allele Identifier: CA340880564

Gene: NEXN

Linked Data

• ClinVar Variation Id: 520311
• ClinVar RCV Id: RCV000619366 ; RCV001855287
• dbSNP Id: rs1553241790
• gnomAD v4: 1-77942026-G-A
• MyVariant Identifiers: chr1:g.78407711G>A (hg19) ; chr1:g.77942026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942026G>A , CM000663.2:g.77942026G>A	GRCh38
NC_000001.10:g.78407711G>A , CM000663.1:g.78407711G>A	GRCh37
NC_000001.9:g.78180299G>A	NCBI36
NG_016625.1:g.58512G>A , LRG_442:g.58512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1477G>A MANE Select	ENSP00000333938.7:p.Asp493Asn
ENST00000330010.12:c.1285G>A	ENSP00000327363.8:p.Asp429Asn
ENST00000334785.11:c.1477G>A	ENSP00000333938.7:p.Asp493Asn
ENST00000342754.5:c.1176G>A
ENST00000470735.1:n.316G>A
ENST00000480732.2:n.1051G>A
NM_001172309.1:c.1285G>A	NP_001165780.1:p.Asp429Asn
NM_144573.3:c.1477G>A , LRG_442t1:c.1477G>A	NP_653174.3:p.Asp493Asn
XM_005271322.2:c.1477G>A	XP_005271379.1:p.Asp493Asn
XM_005271323.2:c.1435G>A	XP_005271380.1:p.Asp479Asn
XM_005271324.3:c.1285G>A	XP_005271381.1:p.Asp429Asn
XM_005271325.2:c.1255G>A	XP_005271382.1:p.Asp419Asn
XM_005271326.2:c.1243G>A	XP_005271383.1:p.Asp415Asn
XM_005271327.2:c.1060G>A	XP_005271384.1:p.Asp354Asn
XM_005271322.4:c.1477G>A	XP_005271379.1:p.Asp493Asn
XM_005271323.4:c.1435G>A	XP_005271380.1:p.Asp479Asn
XM_005271324.5:c.1285G>A	XP_005271381.1:p.Asp429Asn
XM_005271325.4:c.1255G>A	XP_005271382.1:p.Asp419Asn
XM_005271326.4:c.1243G>A	XP_005271383.1:p.Asp415Asn
XM_005271327.4:c.1060G>A	XP_005271384.1:p.Asp354Asn
NM_001172309.2:c.1285G>A	NP_001165780.1:p.Asp429Asn
NM_144573.4:c.1477G>A MANE Select	NP_653174.3:p.Asp493Asn