Canonical Allele Identifier: CA918879

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1690992
• ClinVar RCV Id: RCV002252584 ; RCV002502058
• dbSNP Id: rs767792289
• ExAC: 1:78401706 C / T
• gnomAD v2: 1-78401706-C-T
• gnomAD v4: 1-77936021-C-T
• COSMIC: COSM2242562 ; COSM4241607
• MyVariant Identifiers: chr1:g.78401706C>T (hg19) ; chr1:g.77936021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936021C>T , CM000663.2:g.77936021C>T	GRCh38
NC_000001.10:g.78401706C>T , CM000663.1:g.78401706C>T	GRCh37
NC_000001.9:g.78174294C>T	NCBI36
NG_016625.1:g.52507C>T , LRG_442:g.52507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1450C>T MANE Select	ENSP00000333938.7:p.Arg484Ter
ENST00000330010.12:c.1258C>T	ENSP00000327363.8:p.Arg420Ter
ENST00000334785.11:c.1450C>T	ENSP00000333938.7:p.Arg484Ter
ENST00000342754.5:c.1149C>T
ENST00000480732.2:n.1024C>T
NM_001172309.1:c.1258C>T	NP_001165780.1:p.Arg420Ter
NM_144573.3:c.1450C>T , LRG_442t1:c.1450C>T	NP_653174.3:p.Arg484Ter
XM_005271322.2:c.1450C>T	XP_005271379.1:p.Arg484Ter
XM_005271323.2:c.1408C>T	XP_005271380.1:p.Arg470Ter
XM_005271324.3:c.1258C>T	XP_005271381.1:p.Arg420Ter
XM_005271325.2:c.1251+2542C>T	XP_005271382.1:n.1251+2542C>T
XM_005271326.2:c.1216C>T	XP_005271383.1:p.Arg406Ter
XM_005271327.2:c.1033C>T	XP_005271384.1:p.Arg345Ter
XM_005271322.4:c.1450C>T	XP_005271379.1:p.Arg484Ter
XM_005271323.4:c.1408C>T	XP_005271380.1:p.Arg470Ter
XM_005271324.5:c.1258C>T	XP_005271381.1:p.Arg420Ter
XM_005271325.4:c.1251+2542C>T	XP_005271382.1:n.1251+2542C>T
XM_005271326.4:c.1216C>T	XP_005271383.1:p.Arg406Ter
XM_005271327.4:c.1033C>T	XP_005271384.1:p.Arg345Ter
NM_001172309.2:c.1258C>T	NP_001165780.1:p.Arg420Ter
NM_144573.4:c.1450C>T MANE Select	NP_653174.3:p.Arg484Ter