Canonical Allele Identifier: CA918874
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 229054
dbSNP Id: rs539665448
gnomAD v2: 1-78401671-C-G
gnomAD v3: 1-77935986-C-G
gnomAD v4: 1-77935986-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77935986C>G , CM000663.2:g.77935986C>G GRCh38
NC_000001.10:g.78401671C>G , CM000663.1:g.78401671C>G GRCh37
NC_000001.9:g.78174259C>G NCBI36
NG_016625.1:g.52472C>G , LRG_442:g.52472C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1415C>G MANE Select ENSP00000333938.7:p.Ala472Gly
ENST00000330010.12:c.1223C>G ENSP00000327363.8:p.Ala408Gly
ENST00000334785.11:c.1415C>G ENSP00000333938.7:p.Ala472Gly
ENST00000342754.5:c.1114C>G
ENST00000480732.2:n.989C>G
NM_001172309.1:c.1223C>G NP_001165780.1:p.Ala408Gly
NM_144573.3:c.1415C>G , LRG_442t1:c.1415C>G NP_653174.3:p.Ala472Gly
XM_005271322.2:c.1415C>G XP_005271379.1:p.Ala472Gly
XM_005271323.2:c.1373C>G XP_005271380.1:p.Ala458Gly
XM_005271324.3:c.1223C>G XP_005271381.1:p.Ala408Gly
XM_005271325.2:c.1251+2507C>G XP_005271382.1:n.1251+2507C>G
XM_005271326.2:c.1181C>G XP_005271383.1:p.Ala394Gly
XM_005271327.2:c.998C>G XP_005271384.1:p.Ala333Gly
XM_005271322.4:c.1415C>G XP_005271379.1:p.Ala472Gly
XM_005271323.4:c.1373C>G XP_005271380.1:p.Ala458Gly
XM_005271324.5:c.1223C>G XP_005271381.1:p.Ala408Gly
XM_005271325.4:c.1251+2507C>G XP_005271382.1:n.1251+2507C>G
XM_005271326.4:c.1181C>G XP_005271383.1:p.Ala394Gly
XM_005271327.4:c.998C>G XP_005271384.1:p.Ala333Gly
NM_001172309.2:c.1223C>G NP_001165780.1:p.Ala408Gly
NM_144573.4:c.1415C>G MANE Select NP_653174.3:p.Ala472Gly