Canonical Allele Identifier: CA919021

Gene: NEXN

Linked Data

• ClinVar Variation Id: 841719
• ClinVar RCV Id: RCV001043993
• dbSNP Id: rs771695320
• ExAC: 1:78408500 G / A
• gnomAD v2: 1-78408500-G-A
• gnomAD v3: 1-77942815-G-A
• gnomAD v4: 1-77942815-G-A
• MyVariant Identifiers: chr1:g.78408500G>A (hg19) ; chr1:g.77942815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942815G>A , CM000663.2:g.77942815G>A	GRCh38
NC_000001.10:g.78408500G>A , CM000663.1:g.78408500G>A	GRCh37
NC_000001.9:g.78181088G>A	NCBI36
NG_016625.1:g.59301G>A , LRG_442:g.59301G>A
NG_033243.2:g.41279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.2014G>A MANE Select	ENSP00000333938.7:p.Glu672Lys
ENST00000330010.12:c.1822G>A	ENSP00000327363.8:p.Glu608Lys
ENST00000334785.11:c.2014G>A	ENSP00000333938.7:p.Glu672Lys
ENST00000342754.5:c.1713G>A
ENST00000480732.2:n.1588G>A
NM_001172309.1:c.1822G>A	NP_001165780.1:p.Glu608Lys
NM_144573.3:c.2014G>A , LRG_442t1:c.2014G>A	NP_653174.3:p.Glu672Lys
XM_005271322.2:c.2014G>A	XP_005271379.1:p.Glu672Lys
XM_005271323.2:c.1972G>A	XP_005271380.1:p.Glu658Lys
XM_005271324.3:c.1822G>A	XP_005271381.1:p.Glu608Lys
XM_005271325.2:c.1792G>A	XP_005271382.1:p.Glu598Lys
XM_005271326.2:c.1780G>A	XP_005271383.1:p.Glu594Lys
XM_005271327.2:c.1597G>A	XP_005271384.1:p.Glu533Lys
XM_005271322.4:c.2014G>A	XP_005271379.1:p.Glu672Lys
XM_005271323.4:c.1972G>A	XP_005271380.1:p.Glu658Lys
XM_005271324.5:c.1822G>A	XP_005271381.1:p.Glu608Lys
XM_005271325.4:c.1792G>A	XP_005271382.1:p.Glu598Lys
XM_005271326.4:c.1780G>A	XP_005271383.1:p.Glu594Lys
XM_005271327.4:c.1597G>A	XP_005271384.1:p.Glu533Lys
NM_001172309.2:c.1822G>A	NP_001165780.1:p.Glu608Lys
NM_144573.4:c.2014G>A MANE Select	NP_653174.3:p.Glu672Lys