Canonical Allele Identifier: CA340878167

Gene: NEXN

Linked Data

• ClinVar Variation Id: 2442993
• ClinVar RCV Id: RCV003150799
• dbSNP Id: rs200442502
• gnomAD v4: 1-77935842-C-A
• MyVariant Identifiers: chr1:g.78401527C>A (hg19) ; chr1:g.77935842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935842C>A , CM000663.2:g.77935842C>A	GRCh38
NC_000001.10:g.78401527C>A , CM000663.1:g.78401527C>A	GRCh37
NC_000001.9:g.78174115C>A	NCBI36
NG_016625.1:g.52328C>A , LRG_442:g.52328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1271C>A MANE Select	ENSP00000333938.7:p.Thr424Asn
ENST00000330010.12:c.1079C>A	ENSP00000327363.8:p.Thr360Asn
ENST00000334785.11:c.1271C>A	ENSP00000333938.7:p.Thr424Asn
ENST00000342754.5:c.970C>A
ENST00000440324.5:c.1229C>A	ENSP00000411902.1:p.Thr410Asn
ENST00000464998.1:n.731C>A
ENST00000480732.2:n.845C>A
NM_001172309.1:c.1079C>A	NP_001165780.1:p.Thr360Asn
NM_144573.3:c.1271C>A , LRG_442t1:c.1271C>A	NP_653174.3:p.Thr424Asn
XM_005271322.2:c.1271C>A	XP_005271379.1:p.Thr424Asn
XM_005271323.2:c.1229C>A	XP_005271380.1:p.Thr410Asn
XM_005271324.3:c.1079C>A	XP_005271381.1:p.Thr360Asn
XM_005271325.2:c.1251+2363C>A	XP_005271382.1:n.1251+2363C>A
XM_005271326.2:c.1037C>A	XP_005271383.1:p.Thr346Asn
XM_005271327.2:c.854C>A	XP_005271384.1:p.Thr285Asn
XM_005271322.4:c.1271C>A	XP_005271379.1:p.Thr424Asn
XM_005271323.4:c.1229C>A	XP_005271380.1:p.Thr410Asn
XM_005271324.5:c.1079C>A	XP_005271381.1:p.Thr360Asn
XM_005271325.4:c.1251+2363C>A	XP_005271382.1:n.1251+2363C>A
XM_005271326.4:c.1037C>A	XP_005271383.1:p.Thr346Asn
XM_005271327.4:c.854C>A	XP_005271384.1:p.Thr285Asn
NM_001172309.2:c.1079C>A	NP_001165780.1:p.Thr360Asn
NM_144573.4:c.1271C>A MANE Select	NP_653174.3:p.Thr424Asn