Canonical Allele Identifier: CA335460

Gene: NEXN

Linked Data

• ClinVar Variation Id: 201942
• ClinVar RCV Id: RCV001170726 ; RCV001852366 ; RCV003298241
• dbSNP Id: rs373377525
• gnomAD v3: 1-77929325-G-A
• gnomAD v4: 1-77929325-G-A
• MyVariant Identifiers: chr1:g.78395010G>A (hg19) ; chr1:g.77929325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77929325G>A , CM000663.2:g.77929325G>A	GRCh38
NC_000001.10:g.78395010G>A , CM000663.1:g.78395010G>A	GRCh37
NC_000001.9:g.78167598G>A	NCBI36
NG_016625.1:g.45811G>A , LRG_442:g.45811G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.874G>A MANE Select	ENSP00000333938.7:p.Asp292Asn
ENST00000330010.12:c.682G>A	ENSP00000327363.8:p.Asp228Asn
ENST00000334785.11:c.874G>A	ENSP00000333938.7:p.Asp292Asn
ENST00000342754.5:c.573G>A
ENST00000401035.7:c.682G>A	ENSP00000383814.3:p.Asp228Asn
ENST00000440324.5:c.832G>A	ENSP00000411902.1:p.Asp278Asn
ENST00000464998.1:n.334G>A
NM_001172309.1:c.682G>A	NP_001165780.1:p.Asp228Asn
NM_144573.3:c.874G>A , LRG_442t1:c.874G>A	NP_653174.3:p.Asp292Asn
XM_005271322.2:c.874G>A	XP_005271379.1:p.Asp292Asn
XM_005271323.2:c.832G>A	XP_005271380.1:p.Asp278Asn
XM_005271324.3:c.682G>A	XP_005271381.1:p.Asp228Asn
XM_005271325.2:c.874G>A	XP_005271382.1:p.Asp292Asn
XM_005271326.2:c.640G>A	XP_005271383.1:p.Asp214Asn
XM_005271327.2:c.457G>A	XP_005271384.1:p.Asp153Asn
XM_005271322.4:c.874G>A	XP_005271379.1:p.Asp292Asn
XM_005271323.4:c.832G>A	XP_005271380.1:p.Asp278Asn
XM_005271324.5:c.682G>A	XP_005271381.1:p.Asp228Asn
XM_005271325.4:c.874G>A	XP_005271382.1:p.Asp292Asn
XM_005271326.4:c.640G>A	XP_005271383.1:p.Asp214Asn
XM_005271327.4:c.457G>A	XP_005271384.1:p.Asp153Asn
NM_001172309.2:c.682G>A	NP_001165780.1:p.Asp228Asn
NM_144573.4:c.874G>A MANE Select	NP_653174.3:p.Asp292Asn