Canonical Allele Identifier: CA129605

Gene: NEXN

Linked Data

• ClinVar Variation Id: 30994
• ClinVar RCV Id: RCV000023985 ; RCV000041184 ; RCV000143936 ; RCV000460527 ; RCV000769818 ; RCV001719699
• dbSNP Id: rs146245480
• ExAC: 1:78392548 C / T
• gnomAD v2: 1-78392548-C-T
• gnomAD v3: 1-77926863-C-T
• gnomAD v4: 1-77926863-C-T
• MyVariant Identifiers: chr1:g.78392548C>T (hg19) ; chr1:g.77926863C>T (hg38)
• PubMed: PMID:20970104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77926863C>T , CM000663.2:g.77926863C>T	GRCh38
NC_000001.10:g.78392548C>T , CM000663.1:g.78392548C>T	GRCh37
NC_000001.9:g.78165136C>T	NCBI36
NG_016625.1:g.43349C>T , LRG_442:g.43349C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.835C>T MANE Select	ENSP00000333938.7:p.Arg279Cys
ENST00000330010.12:c.643C>T	ENSP00000327363.8:p.Arg215Cys
ENST00000334785.11:c.835C>T	ENSP00000333938.7:p.Arg279Cys
ENST00000342754.5:c.534C>T
ENST00000401035.7:c.643C>T	ENSP00000383814.3:p.Arg215Cys
ENST00000440324.5:c.793C>T	ENSP00000411902.1:p.Arg265Cys
ENST00000464998.1:n.295C>T
NM_001172309.1:c.643C>T	NP_001165780.1:p.Arg215Cys
NM_144573.3:c.835C>T , LRG_442t1:c.835C>T	NP_653174.3:p.Arg279Cys
XM_005271322.2:c.835C>T	XP_005271379.1:p.Arg279Cys
XM_005271323.2:c.793C>T	XP_005271380.1:p.Arg265Cys
XM_005271324.3:c.643C>T	XP_005271381.1:p.Arg215Cys
XM_005271325.2:c.835C>T	XP_005271382.1:p.Arg279Cys
XM_005271326.2:c.601C>T	XP_005271383.1:p.Arg201Cys
XM_005271327.2:c.448-2453C>T	XP_005271384.1:n.448-2453C>T
XM_005271322.4:c.835C>T	XP_005271379.1:p.Arg279Cys
XM_005271323.4:c.793C>T	XP_005271380.1:p.Arg265Cys
XM_005271324.5:c.643C>T	XP_005271381.1:p.Arg215Cys
XM_005271325.4:c.835C>T	XP_005271382.1:p.Arg279Cys
XM_005271326.4:c.601C>T	XP_005271383.1:p.Arg201Cys
XM_005271327.4:c.448-2453C>T	XP_005271384.1:n.448-2453C>T
NM_001172309.2:c.643C>T	NP_001165780.1:p.Arg215Cys
NM_144573.4:c.835C>T MANE Select	NP_653174.3:p.Arg279Cys