Canonical Allele Identifier: CA918943

Gene: NEXN

Linked Data

• dbSNP Id: rs766276540
• ExAC: 1:78407870 G / C
• gnomAD v2: 1-78407870-G-C
• gnomAD v4: 1-77942185-G-C
• MyVariant Identifiers: chr1:g.78407870G>C (hg19) ; chr1:g.77942185G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942185G>C , CM000663.2:g.77942185G>C	GRCh38
NC_000001.10:g.78407870G>C , CM000663.1:g.78407870G>C	GRCh37
NC_000001.9:g.78180458G>C	NCBI36
NG_016625.1:g.58671G>C , LRG_442:g.58671G>C
NG_033243.2:g.41909C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1636G>C MANE Select	ENSP00000333938.7:p.Glu546Gln
ENST00000330010.12:c.1444G>C	ENSP00000327363.8:p.Glu482Gln
ENST00000334785.11:c.1636G>C	ENSP00000333938.7:p.Glu546Gln
ENST00000342754.5:c.1335G>C
ENST00000470735.1:n.475G>C
ENST00000480732.2:n.1210G>C
NM_001172309.1:c.1444G>C	NP_001165780.1:p.Glu482Gln
NM_144573.3:c.1636G>C , LRG_442t1:c.1636G>C	NP_653174.3:p.Glu546Gln
XM_005271322.2:c.1636G>C	XP_005271379.1:p.Glu546Gln
XM_005271323.2:c.1594G>C	XP_005271380.1:p.Glu532Gln
XM_005271324.3:c.1444G>C	XP_005271381.1:p.Glu482Gln
XM_005271325.2:c.1414G>C	XP_005271382.1:p.Glu472Gln
XM_005271326.2:c.1402G>C	XP_005271383.1:p.Glu468Gln
XM_005271327.2:c.1219G>C	XP_005271384.1:p.Glu407Gln
XM_005271322.4:c.1636G>C	XP_005271379.1:p.Glu546Gln
XM_005271323.4:c.1594G>C	XP_005271380.1:p.Glu532Gln
XM_005271324.5:c.1444G>C	XP_005271381.1:p.Glu482Gln
XM_005271325.4:c.1414G>C	XP_005271382.1:p.Glu472Gln
XM_005271326.4:c.1402G>C	XP_005271383.1:p.Glu468Gln
XM_005271327.4:c.1219G>C	XP_005271384.1:p.Glu407Gln
NM_001172309.2:c.1444G>C	NP_001165780.1:p.Glu482Gln
NM_144573.4:c.1636G>C MANE Select	NP_653174.3:p.Glu546Gln