Canonical Allele Identifier: CA918873
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 766186
ClinVar RCV Id: RCV001452979
dbSNP Id: rs780858511
gnomAD v2: 1-78401669-A-G
gnomAD v4: 1-77935984-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77935984A>G , CM000663.2:g.77935984A>G GRCh38
NC_000001.10:g.78401669A>G , CM000663.1:g.78401669A>G GRCh37
NC_000001.9:g.78174257A>G NCBI36
NG_016625.1:g.52470A>G , LRG_442:g.52470A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000334785.12:c.1413A>G MANE Select ENSP00000333938.7:p.Arg471=
ENST00000330010.12:c.1221A>G ENSP00000327363.8:p.Arg407=
ENST00000334785.11:c.1413A>G ENSP00000333938.7:p.Arg471=
ENST00000342754.5:c.1112A>G
ENST00000480732.2:n.987A>G
NM_001172309.1:c.1221A>G NP_001165780.1:p.Arg407=
NM_144573.3:c.1413A>G , LRG_442t1:c.1413A>G NP_653174.3:p.Arg471=
XM_005271322.2:c.1413A>G XP_005271379.1:p.Arg471=
XM_005271323.2:c.1371A>G XP_005271380.1:p.Arg457=
XM_005271324.3:c.1221A>G XP_005271381.1:p.Arg407=
XM_005271325.2:c.1251+2505A>G XP_005271382.1:n.1251+2505A>G
XM_005271326.2:c.1179A>G XP_005271383.1:p.Arg393=
XM_005271327.2:c.996A>G XP_005271384.1:p.Arg332=
XM_005271322.4:c.1413A>G XP_005271379.1:p.Arg471=
XM_005271323.4:c.1371A>G XP_005271380.1:p.Arg457=
XM_005271324.5:c.1221A>G XP_005271381.1:p.Arg407=
XM_005271325.4:c.1251+2505A>G XP_005271382.1:n.1251+2505A>G
XM_005271326.4:c.1179A>G XP_005271383.1:p.Arg393=
XM_005271327.4:c.996A>G XP_005271384.1:p.Arg332=
NM_001172309.2:c.1221A>G NP_001165780.1:p.Arg407=
NM_144573.4:c.1413A>G MANE Select NP_653174.3:p.Arg471=