Canonical Allele Identifier: CA918910

Gene: NEXN

Linked Data

• dbSNP Id: rs755975282
• ExAC: 1:78407717 G / A
• gnomAD v2: 1-78407717-G-A
• gnomAD v4: 1-77942032-G-A
• MyVariant Identifiers: chr1:g.78407717G>A (hg19) ; chr1:g.77942032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942032G>A , CM000663.2:g.77942032G>A	GRCh38
NC_000001.10:g.78407717G>A , CM000663.1:g.78407717G>A	GRCh37
NC_000001.9:g.78180305G>A	NCBI36
NG_016625.1:g.58518G>A , LRG_442:g.58518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1483G>A MANE Select	ENSP00000333938.7:p.Val495Ile
ENST00000330010.12:c.1291G>A	ENSP00000327363.8:p.Val431Ile
ENST00000334785.11:c.1483G>A	ENSP00000333938.7:p.Val495Ile
ENST00000342754.5:c.1182G>A
ENST00000470735.1:n.322G>A
ENST00000480732.2:n.1057G>A
NM_001172309.1:c.1291G>A	NP_001165780.1:p.Val431Ile
NM_144573.3:c.1483G>A , LRG_442t1:c.1483G>A	NP_653174.3:p.Val495Ile
XM_005271322.2:c.1483G>A	XP_005271379.1:p.Val495Ile
XM_005271323.2:c.1441G>A	XP_005271380.1:p.Val481Ile
XM_005271324.3:c.1291G>A	XP_005271381.1:p.Val431Ile
XM_005271325.2:c.1261G>A	XP_005271382.1:p.Val421Ile
XM_005271326.2:c.1249G>A	XP_005271383.1:p.Val417Ile
XM_005271327.2:c.1066G>A	XP_005271384.1:p.Val356Ile
XM_005271322.4:c.1483G>A	XP_005271379.1:p.Val495Ile
XM_005271323.4:c.1441G>A	XP_005271380.1:p.Val481Ile
XM_005271324.5:c.1291G>A	XP_005271381.1:p.Val431Ile
XM_005271325.4:c.1261G>A	XP_005271382.1:p.Val421Ile
XM_005271326.4:c.1249G>A	XP_005271383.1:p.Val417Ile
XM_005271327.4:c.1066G>A	XP_005271384.1:p.Val356Ile
NM_001172309.2:c.1291G>A	NP_001165780.1:p.Val431Ile
NM_144573.4:c.1483G>A MANE Select	NP_653174.3:p.Val495Ile