Canonical Allele Identifier: CA418572079

Gene: NEXN

Linked Data

• ClinVar Variation Id: 2949982
• ClinVar RCV Id: RCV003807340
• MyVariant Identifiers: chr1:g.78399053A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933368A>G , CM000663.2:g.77933368A>G	GRCh38
NC_000001.10:g.78399053A>G , CM000663.1:g.78399053A>G	GRCh37
NC_000001.9:g.78171641A>G	NCBI36
NG_016625.1:g.49854A>G , LRG_442:g.49854A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1140A>G MANE Select	ENSP00000333938.7:p.Glu380=
ENST00000330010.12:c.948A>G	ENSP00000327363.8:p.Glu316=
ENST00000334785.11:c.1140A>G	ENSP00000333938.7:p.Glu380=
ENST00000342754.5:c.839A>G
ENST00000401035.7:c.948A>G	ENSP00000383814.3:p.Glu316=
ENST00000440324.5:c.1098A>G	ENSP00000411902.1:p.Glu366=
ENST00000464998.1:n.600A>G
ENST00000480732.2:n.714A>G
NM_001172309.1:c.948A>G	NP_001165780.1:p.Glu316=
NM_144573.3:c.1140A>G , LRG_442t1:c.1140A>G	NP_653174.3:p.Glu380=
XM_005271322.2:c.1140A>G	XP_005271379.1:p.Glu380=
XM_005271323.2:c.1098A>G	XP_005271380.1:p.Glu366=
XM_005271324.3:c.948A>G	XP_005271381.1:p.Glu316=
XM_005271325.2:c.1140A>G	XP_005271382.1:p.Glu380=
XM_005271326.2:c.906A>G	XP_005271383.1:p.Glu302=
XM_005271327.2:c.723A>G	XP_005271384.1:p.Glu241=
XM_005271322.4:c.1140A>G	XP_005271379.1:p.Glu380=
XM_005271323.4:c.1098A>G	XP_005271380.1:p.Glu366=
XM_005271324.5:c.948A>G	XP_005271381.1:p.Glu316=
XM_005271325.4:c.1140A>G	XP_005271382.1:p.Glu380=
XM_005271326.4:c.906A>G	XP_005271383.1:p.Glu302=
XM_005271327.4:c.723A>G	XP_005271384.1:p.Glu241=
NM_001172309.2:c.948A>G	NP_001165780.1:p.Glu316=
NM_144573.4:c.1140A>G MANE Select	NP_653174.3:p.Glu380=