Canonical Allele Identifier: CA918574

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1021541
• ClinVar RCV Id: RCV001321324 ; RCV002412032
• dbSNP Id: rs761888910
• ExAC: 1:78383398 G / A
• gnomAD v2: 1-78383398-G-A
• gnomAD v3: 1-77917713-G-A
• gnomAD v4: 1-77917713-G-A
• MyVariant Identifiers: chr1:g.78383398G>A (hg19) ; chr1:g.77917713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917713G>A , CM000663.2:g.77917713G>A	GRCh38
NC_000001.10:g.78383398G>A , CM000663.1:g.78383398G>A	GRCh37
NC_000001.9:g.78155986G>A	NCBI36
NG_016625.1:g.34199G>A , LRG_442:g.34199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.175G>A MANE Select	ENSP00000333938.7:p.Glu59Lys
ENST00000330010.12:c.28-247G>A	ENSP00000327363.8:n.28-247G>A
ENST00000334785.11:c.175G>A	ENSP00000333938.7:p.Glu59Lys
ENST00000401035.7:c.28-247G>A	ENSP00000383814.3:n.28-247G>A
ENST00000440324.5:c.175G>A	ENSP00000411902.1:p.Glu59Lys
NM_001172309.1:c.28-247G>A	NP_001165780.1:n.28-247G>A
NM_144573.3:c.175G>A , LRG_442t1:c.175G>A	NP_653174.3:p.Glu59Lys
XM_005271322.2:c.175G>A	XP_005271379.1:p.Glu59Lys
XM_005271323.2:c.175G>A	XP_005271380.1:p.Glu59Lys
XM_005271324.3:c.28-247G>A	XP_005271381.1:n.28-247G>A
XM_005271325.2:c.175G>A	XP_005271382.1:p.Glu59Lys
XM_005271326.2:c.28-247G>A	XP_005271383.1:n.28-247G>A
XM_005271327.2:c.175G>A	XP_005271384.1:p.Glu59Lys
XM_005271322.4:c.175G>A	XP_005271379.1:p.Glu59Lys
XM_005271323.4:c.175G>A	XP_005271380.1:p.Glu59Lys
XM_005271324.5:c.28-247G>A	XP_005271381.1:n.28-247G>A
XM_005271325.4:c.175G>A	XP_005271382.1:p.Glu59Lys
XM_005271326.4:c.28-247G>A	XP_005271383.1:n.28-247G>A
XM_005271327.4:c.175G>A	XP_005271384.1:p.Glu59Lys
NM_001172309.2:c.28-247G>A	NP_001165780.1:n.28-247G>A
NM_144573.4:c.175G>A MANE Select	NP_653174.3:p.Glu59Lys