Canonical Allele Identifier: CA418573600

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1099302
• ClinVar RCV Id: RCV001421532 ; RCV002395963
• dbSNP Id: rs1346328853
• gnomAD v3: 1-77942200-C-T
• gnomAD v4: 1-77942200-C-T
• MyVariant Identifiers: chr1:g.78407885C>T (hg19) ; chr1:g.77942200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942200C>T , CM000663.2:g.77942200C>T	GRCh38
NC_000001.10:g.78407885C>T , CM000663.1:g.78407885C>T	GRCh37
NC_000001.9:g.78180473C>T	NCBI36
NG_016625.1:g.58686C>T , LRG_442:g.58686C>T
NG_033243.2:g.41894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1651C>T MANE Select	ENSP00000333938.7:p.Leu551=
ENST00000330010.12:c.1459C>T	ENSP00000327363.8:p.Leu487=
ENST00000334785.11:c.1651C>T	ENSP00000333938.7:p.Leu551=
ENST00000342754.5:c.1350C>T
ENST00000470735.1:n.490C>T
ENST00000480732.2:n.1225C>T
NM_001172309.1:c.1459C>T	NP_001165780.1:p.Leu487=
NM_144573.3:c.1651C>T , LRG_442t1:c.1651C>T	NP_653174.3:p.Leu551=
XM_005271322.2:c.1651C>T	XP_005271379.1:p.Leu551=
XM_005271323.2:c.1609C>T	XP_005271380.1:p.Leu537=
XM_005271324.3:c.1459C>T	XP_005271381.1:p.Leu487=
XM_005271325.2:c.1429C>T	XP_005271382.1:p.Leu477=
XM_005271326.2:c.1417C>T	XP_005271383.1:p.Leu473=
XM_005271327.2:c.1234C>T	XP_005271384.1:p.Leu412=
XM_005271322.4:c.1651C>T	XP_005271379.1:p.Leu551=
XM_005271323.4:c.1609C>T	XP_005271380.1:p.Leu537=
XM_005271324.5:c.1459C>T	XP_005271381.1:p.Leu487=
XM_005271325.4:c.1429C>T	XP_005271382.1:p.Leu477=
XM_005271326.4:c.1417C>T	XP_005271383.1:p.Leu473=
XM_005271327.4:c.1234C>T	XP_005271384.1:p.Leu412=
NM_001172309.2:c.1459C>T	NP_001165780.1:p.Leu487=
NM_144573.4:c.1651C>T MANE Select	NP_653174.3:p.Leu551=