Canonical Allele Identifier: CA418709447
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 744107
ClinVar RCV Id: RCV000920530
dbSNP Id: rs1571157558
gnomAD v3: 1-77935972-A-T
gnomAD v4: 1-77935972-A-T
MyVariant Identifiers: chr1:g.78401657A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77935972A>T , CM000663.2:g.77935972A>T GRCh38
NC_000001.10:g.78401657A>T , CM000663.1:g.78401657A>T GRCh37
NC_000001.9:g.78174245A>T NCBI36
NG_016625.1:g.52458A>T , LRG_442:g.52458A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1401A>T MANE Select ENSP00000333938.7:p.Ile467=
ENST00000330010.12:c.1209A>T ENSP00000327363.8:p.Ile403=
ENST00000334785.11:c.1401A>T ENSP00000333938.7:p.Ile467=
ENST00000342754.5:c.1100A>T
ENST00000480732.2:n.975A>T
NM_001172309.1:c.1209A>T NP_001165780.1:p.Ile403=
NM_144573.3:c.1401A>T , LRG_442t1:c.1401A>T NP_653174.3:p.Ile467=
XM_005271322.2:c.1401A>T XP_005271379.1:p.Ile467=
XM_005271323.2:c.1359A>T XP_005271380.1:p.Ile453=
XM_005271324.3:c.1209A>T XP_005271381.1:p.Ile403=
XM_005271325.2:c.1251+2493A>T XP_005271382.1:n.1251+2493A>T
XM_005271326.2:c.1167A>T XP_005271383.1:p.Ile389=
XM_005271327.2:c.984A>T XP_005271384.1:p.Ile328=
XM_005271322.4:c.1401A>T XP_005271379.1:p.Ile467=
XM_005271323.4:c.1359A>T XP_005271380.1:p.Ile453=
XM_005271324.5:c.1209A>T XP_005271381.1:p.Ile403=
XM_005271325.4:c.1251+2493A>T XP_005271382.1:n.1251+2493A>T
XM_005271326.4:c.1167A>T XP_005271383.1:p.Ile389=
XM_005271327.4:c.984A>T XP_005271384.1:p.Ile328=
NM_001172309.2:c.1209A>T NP_001165780.1:p.Ile403=
NM_144573.4:c.1401A>T MANE Select NP_653174.3:p.Ile467=