Canonical Allele Identifier: CA918676

Gene: NEXN

Linked Data

• ClinVar Variation Id: 538112
• ClinVar RCV Id: RCV000647290 ; RCV002343328
• dbSNP Id: rs776106290
• ExAC: 1:78392116 A / G
• gnomAD v2: 1-78392116-A-G
• gnomAD v3: 1-77926431-A-G
• gnomAD v4: 1-77926431-A-G
• MyVariant Identifiers: chr1:g.78392116A>G (hg19) ; chr1:g.78392116_78392119delinsGCTT (hg19) ; chr1:g.77926431A>G (hg38) ; chr1:g.77926431_77926434delinsGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77926431A>G , CM000663.2:g.77926431A>G	GRCh38
NC_000001.10:g.78392116A>G , CM000663.1:g.78392116A>G	GRCh37
NC_000001.9:g.78164704A>G	NCBI36
NG_016625.1:g.42917A>G , LRG_442:g.42917A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.507A>G MANE Select	ENSP00000333938.7:p.Leu169=
ENST00000330010.12:c.315A>G	ENSP00000327363.8:p.Leu105=
ENST00000334785.11:c.507A>G	ENSP00000333938.7:p.Leu169=
ENST00000342754.5:c.206A>G
ENST00000401035.7:c.315A>G	ENSP00000383814.3:p.Leu105=
ENST00000440324.5:c.465A>G	ENSP00000411902.1:p.Leu155=
NM_001172309.1:c.315A>G	NP_001165780.1:p.Leu105=
NM_144573.3:c.507A>G , LRG_442t1:c.507A>G	NP_653174.3:p.Leu169=
XM_005271322.2:c.507A>G	XP_005271379.1:p.Leu169=
XM_005271323.2:c.465A>G	XP_005271380.1:p.Leu155=
XM_005271324.3:c.315A>G	XP_005271381.1:p.Leu105=
XM_005271325.2:c.507A>G	XP_005271382.1:p.Leu169=
XM_005271326.2:c.273A>G	XP_005271383.1:p.Leu91=
XM_005271327.2:c.448-2885A>G	XP_005271384.1:n.448-2885A>G
XM_005271322.4:c.507A>G	XP_005271379.1:p.Leu169=
XM_005271323.4:c.465A>G	XP_005271380.1:p.Leu155=
XM_005271324.5:c.315A>G	XP_005271381.1:p.Leu105=
XM_005271325.4:c.507A>G	XP_005271382.1:p.Leu169=
XM_005271326.4:c.273A>G	XP_005271383.1:p.Leu91=
XM_005271327.4:c.448-2885A>G	XP_005271384.1:n.448-2885A>G
NM_001172309.2:c.315A>G	NP_001165780.1:p.Leu105=
NM_144573.4:c.507A>G MANE Select	NP_653174.3:p.Leu169=