Canonical Allele Identifier: CA918872
Gene: NEXN HGNC NCBI

Linked Data

dbSNP Id: rs746761862
gnomAD v2: 1-78401668-G-T
gnomAD v4: 1-77935983-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77935983G>T , CM000663.2:g.77935983G>T GRCh38
NC_000001.10:g.78401668G>T , CM000663.1:g.78401668G>T GRCh37
NC_000001.9:g.78174256G>T NCBI36
NG_016625.1:g.52469G>T , LRG_442:g.52469G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1412G>T MANE Select ENSP00000333938.7:p.Arg471Leu
ENST00000330010.12:c.1220G>T ENSP00000327363.8:p.Arg407Leu
ENST00000334785.11:c.1412G>T ENSP00000333938.7:p.Arg471Leu
ENST00000342754.5:c.1111G>T
ENST00000480732.2:n.986G>T
NM_001172309.1:c.1220G>T NP_001165780.1:p.Arg407Leu
NM_144573.3:c.1412G>T , LRG_442t1:c.1412G>T NP_653174.3:p.Arg471Leu
XM_005271322.2:c.1412G>T XP_005271379.1:p.Arg471Leu
XM_005271323.2:c.1370G>T XP_005271380.1:p.Arg457Leu
XM_005271324.3:c.1220G>T XP_005271381.1:p.Arg407Leu
XM_005271325.2:c.1251+2504G>T XP_005271382.1:n.1251+2504G>T
XM_005271326.2:c.1178G>T XP_005271383.1:p.Arg393Leu
XM_005271327.2:c.995G>T XP_005271384.1:p.Arg332Leu
XM_005271322.4:c.1412G>T XP_005271379.1:p.Arg471Leu
XM_005271323.4:c.1370G>T XP_005271380.1:p.Arg457Leu
XM_005271324.5:c.1220G>T XP_005271381.1:p.Arg407Leu
XM_005271325.4:c.1251+2504G>T XP_005271382.1:n.1251+2504G>T
XM_005271326.4:c.1178G>T XP_005271383.1:p.Arg393Leu
XM_005271327.4:c.995G>T XP_005271384.1:p.Arg332Leu
NM_001172309.2:c.1220G>T NP_001165780.1:p.Arg407Leu
NM_144573.4:c.1412G>T MANE Select NP_653174.3:p.Arg471Leu