Canonical Allele Identifier: CA418709405
Gene: NEXN HGNC NCBI

Linked Data

gnomAD v4: 1-77935915-A-T
MyVariant Identifiers: chr1:g.78401600A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77935915A>T , CM000663.2:g.77935915A>T GRCh38
NC_000001.10:g.78401600A>T , CM000663.1:g.78401600A>T GRCh37
NC_000001.9:g.78174188A>T NCBI36
NG_016625.1:g.52401A>T , LRG_442:g.52401A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334785.12:c.1344A>T MANE Select ENSP00000333938.7:p.Leu448=
ENST00000330010.12:c.1152A>T ENSP00000327363.8:p.Leu384=
ENST00000334785.11:c.1344A>T ENSP00000333938.7:p.Leu448=
ENST00000342754.5:c.1043A>T
ENST00000440324.5:c.1302A>T ENSP00000411902.1:p.Leu434=
ENST00000464998.1:n.804A>T
ENST00000480732.2:n.918A>T
NM_001172309.1:c.1152A>T NP_001165780.1:p.Leu384=
NM_144573.3:c.1344A>T , LRG_442t1:c.1344A>T NP_653174.3:p.Leu448=
XM_005271322.2:c.1344A>T XP_005271379.1:p.Leu448=
XM_005271323.2:c.1302A>T XP_005271380.1:p.Leu434=
XM_005271324.3:c.1152A>T XP_005271381.1:p.Leu384=
XM_005271325.2:c.1251+2436A>T XP_005271382.1:n.1251+2436A>T
XM_005271326.2:c.1110A>T XP_005271383.1:p.Leu370=
XM_005271327.2:c.927A>T XP_005271384.1:p.Leu309=
XM_005271322.4:c.1344A>T XP_005271379.1:p.Leu448=
XM_005271323.4:c.1302A>T XP_005271380.1:p.Leu434=
XM_005271324.5:c.1152A>T XP_005271381.1:p.Leu384=
XM_005271325.4:c.1251+2436A>T XP_005271382.1:n.1251+2436A>T
XM_005271326.4:c.1110A>T XP_005271383.1:p.Leu370=
XM_005271327.4:c.927A>T XP_005271384.1:p.Leu309=
NM_001172309.2:c.1152A>T NP_001165780.1:p.Leu384=
NM_144573.4:c.1344A>T MANE Select NP_653174.3:p.Leu448=