Canonical Allele Identifier: CA340881589

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1027743
• ClinVar RCV Id: RCV001328613 ; RCV002493718
• dbSNP Id: rs753636624
• gnomAD v2: 1-78407874-T-A
• gnomAD v4: 1-77942189-T-A
• MyVariant Identifiers: chr1:g.78407874T>A (hg19) ; chr1:g.77942189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942189T>A , CM000663.2:g.77942189T>A	GRCh38
NC_000001.10:g.78407874T>A , CM000663.1:g.78407874T>A	GRCh37
NC_000001.9:g.78180462T>A	NCBI36
NG_016625.1:g.58675T>A , LRG_442:g.58675T>A
NG_033243.2:g.41905A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1640T>A MANE Select	ENSP00000333938.7:p.Ile547Asn
ENST00000330010.12:c.1448T>A	ENSP00000327363.8:p.Ile483Asn
ENST00000334785.11:c.1640T>A	ENSP00000333938.7:p.Ile547Asn
ENST00000342754.5:c.1339T>A
ENST00000470735.1:n.479T>A
ENST00000480732.2:n.1214T>A
NM_001172309.1:c.1448T>A	NP_001165780.1:p.Ile483Asn
NM_144573.3:c.1640T>A , LRG_442t1:c.1640T>A	NP_653174.3:p.Ile547Asn
XM_005271322.2:c.1640T>A	XP_005271379.1:p.Ile547Asn
XM_005271323.2:c.1598T>A	XP_005271380.1:p.Ile533Asn
XM_005271324.3:c.1448T>A	XP_005271381.1:p.Ile483Asn
XM_005271325.2:c.1418T>A	XP_005271382.1:p.Ile473Asn
XM_005271326.2:c.1406T>A	XP_005271383.1:p.Ile469Asn
XM_005271327.2:c.1223T>A	XP_005271384.1:p.Ile408Asn
XM_005271322.4:c.1640T>A	XP_005271379.1:p.Ile547Asn
XM_005271323.4:c.1598T>A	XP_005271380.1:p.Ile533Asn
XM_005271324.5:c.1448T>A	XP_005271381.1:p.Ile483Asn
XM_005271325.4:c.1418T>A	XP_005271382.1:p.Ile473Asn
XM_005271326.4:c.1406T>A	XP_005271383.1:p.Ile469Asn
XM_005271327.4:c.1223T>A	XP_005271384.1:p.Ile408Asn
NM_001172309.2:c.1448T>A	NP_001165780.1:p.Ile483Asn
NM_144573.4:c.1640T>A MANE Select	NP_653174.3:p.Ile547Asn