Canonical Allele Identifier: CA142155

Gene: NEXN

Linked Data

• ClinVar Variation Id: 47906
• ClinVar RCV Id: RCV000041177 ; RCV000231898 ; RCV000242769 ; RCV000768800 ; RCV001284866
• dbSNP Id: rs35117963
• ExAC: 1:78383874 G / A
• gnomAD: 1:78383874 G / A
• MyVariant Identifiers: chr1:g.78383874G>A (hg19) ; chr1:g.77918189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77918189G>A , CM000663.2:g.77918189G>A	GRCh38
NC_000001.10:g.78383874G>A , CM000663.1:g.78383874G>A	GRCh37
NC_000001.9:g.78156462G>A	NCBI36
NG_016625.1:g.34675G>A , LRG_442:g.34675G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.363G>A MANE Select	ENSP00000333938.7:p.Thr121=
ENST00000330010.12:c.171G>A	ENSP00000327363.8:p.Thr57=
ENST00000334785.11:c.363G>A	ENSP00000333938.7:p.Thr121=
ENST00000342754.5:n.62G>A
ENST00000401035.7:c.171G>A	ENSP00000383814.3:p.Thr57=
ENST00000440324.5:c.363G>A	ENSP00000411902.1:p.Thr121=
NM_001172309.1:c.171G>A	NP_001165780.1:p.Thr57=
NM_144573.3:c.363G>A , LRG_442t1:c.363G>A	NP_653174.3:p.Thr121=
XM_005271322.2:c.363G>A	XP_005271379.1:p.Thr121=
XM_005271323.2:c.363G>A	XP_005271380.1:p.Thr121=
XM_005271324.3:c.171G>A	XP_005271381.1:p.Thr57=
XM_005271325.2:c.363G>A	XP_005271382.1:p.Thr121=
XM_005271326.2:c.171G>A	XP_005271383.1:p.Thr57=
XM_005271327.2:c.363G>A	XP_005271384.1:p.Thr121=
XM_005271322.4:c.363G>A	XP_005271379.1:p.Thr121=
XM_005271323.4:c.363G>A	XP_005271380.1:p.Thr121=
XM_005271324.5:c.171G>A	XP_005271381.1:p.Thr57=
XM_005271325.4:c.363G>A	XP_005271382.1:p.Thr121=
XM_005271326.4:c.171G>A	XP_005271383.1:p.Thr57=
XM_005271327.4:c.363G>A	XP_005271384.1:p.Thr121=
NM_001172309.2:c.171G>A	NP_001165780.1:p.Thr57=
NM_144573.4:c.363G>A MANE Select	NP_653174.3:p.Thr121=