Canonical Allele Identifier: CA239966

Gene: NEXN

Linked Data

• ClinVar Variation Id: 194131
• ClinVar RCV Id: RCV000174419 ; RCV000768805
• dbSNP Id: rs794727078
• gnomAD: 1:78407887 A / G
• MyVariant Identifiers: chr1:g.78407887A>G (hg19) ; chr1:g.77942202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942202A>G , CM000663.2:g.77942202A>G	GRCh38
NC_000001.10:g.78407887A>G , CM000663.1:g.78407887A>G	GRCh37
NC_000001.9:g.78180475A>G	NCBI36
NG_016625.1:g.58688A>G , LRG_442:g.58688A>G
NG_033243.2:g.41892T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1653A>G MANE Select	ENSP00000333938.7:p.Leu551=
ENST00000330010.12:c.1461A>G	ENSP00000327363.8:p.Leu487=
ENST00000334785.11:c.1653A>G	ENSP00000333938.7:p.Leu551=
ENST00000342754.5:n.1352A>G
ENST00000470735.1:n.492A>G
ENST00000480732.2:n.1227A>G
NM_001172309.1:c.1461A>G	NP_001165780.1:p.Leu487=
NM_144573.3:c.1653A>G , LRG_442t1:c.1653A>G	NP_653174.3:p.Leu551=
XM_005271322.2:c.1653A>G	XP_005271379.1:p.Leu551=
XM_005271323.2:c.1611A>G	XP_005271380.1:p.Leu537=
XM_005271324.3:c.1461A>G	XP_005271381.1:p.Leu487=
XM_005271325.2:c.1431A>G	XP_005271382.1:p.Leu477=
XM_005271326.2:c.1419A>G	XP_005271383.1:p.Leu473=
XM_005271327.2:c.1236A>G	XP_005271384.1:p.Leu412=
XM_005271322.4:c.1653A>G	XP_005271379.1:p.Leu551=
XM_005271323.4:c.1611A>G	XP_005271380.1:p.Leu537=
XM_005271324.5:c.1461A>G	XP_005271381.1:p.Leu487=
XM_005271325.4:c.1431A>G	XP_005271382.1:p.Leu477=
XM_005271326.4:c.1419A>G	XP_005271383.1:p.Leu473=
XM_005271327.4:c.1236A>G	XP_005271384.1:p.Leu412=
NM_001172309.2:c.1461A>G	NP_001165780.1:p.Leu487=
NM_144573.4:c.1653A>G MANE Select	NP_653174.3:p.Leu551=