Canonical Allele Identifier: CA418572078

Gene: NEXN

Linked Data

• ClinVar Variation Id: 470676
• ClinVar RCV Id: RCV000557603
• dbSNP Id: rs1553240026
• MyVariant Identifiers: chr1:g.78399050A>G (hg19) ; chr1:g.77933365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933365A>G , CM000663.2:g.77933365A>G	GRCh38
NC_000001.10:g.78399050A>G , CM000663.1:g.78399050A>G	GRCh37
NC_000001.9:g.78171638A>G	NCBI36
NG_016625.1:g.49851A>G , LRG_442:g.49851A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1137A>G MANE Select	ENSP00000333938.7:p.Glu379=
ENST00000330010.12:c.945A>G	ENSP00000327363.8:p.Glu315=
ENST00000334785.11:c.1137A>G	ENSP00000333938.7:p.Glu379=
ENST00000342754.5:c.836A>G
ENST00000401035.7:c.945A>G	ENSP00000383814.3:p.Glu315=
ENST00000440324.5:c.1095A>G	ENSP00000411902.1:p.Glu365=
ENST00000464998.1:n.597A>G
ENST00000480732.2:n.711A>G
NM_001172309.1:c.945A>G	NP_001165780.1:p.Glu315=
NM_144573.3:c.1137A>G , LRG_442t1:c.1137A>G	NP_653174.3:p.Glu379=
XM_005271322.2:c.1137A>G	XP_005271379.1:p.Glu379=
XM_005271323.2:c.1095A>G	XP_005271380.1:p.Glu365=
XM_005271324.3:c.945A>G	XP_005271381.1:p.Glu315=
XM_005271325.2:c.1137A>G	XP_005271382.1:p.Glu379=
XM_005271326.2:c.903A>G	XP_005271383.1:p.Glu301=
XM_005271327.2:c.720A>G	XP_005271384.1:p.Glu240=
XM_005271322.4:c.1137A>G	XP_005271379.1:p.Glu379=
XM_005271323.4:c.1095A>G	XP_005271380.1:p.Glu365=
XM_005271324.5:c.945A>G	XP_005271381.1:p.Glu315=
XM_005271325.4:c.1137A>G	XP_005271382.1:p.Glu379=
XM_005271326.4:c.903A>G	XP_005271383.1:p.Glu301=
XM_005271327.4:c.720A>G	XP_005271384.1:p.Glu240=
NM_001172309.2:c.945A>G	NP_001165780.1:p.Glu315=
NM_144573.4:c.1137A>G MANE Select	NP_653174.3:p.Glu379=