Canonical Allele Identifier: CA918859

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1769795
• ClinVar RCV Id: RCV002385578
• dbSNP Id: rs200002561
• ExAC: 1:78401572 G / A
• gnomAD v2: 1-78401572-G-A
• gnomAD v3: 1-77935887-G-A
• gnomAD v4: 1-77935887-G-A
• MyVariant Identifiers: chr1:g.78401572G>A (hg19) ; chr1:g.77935887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935887G>A , CM000663.2:g.77935887G>A	GRCh38
NC_000001.10:g.78401572G>A , CM000663.1:g.78401572G>A	GRCh37
NC_000001.9:g.78174160G>A	NCBI36
NG_016625.1:g.52373G>A , LRG_442:g.52373G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1316G>A MANE Select	ENSP00000333938.7:p.Arg439Lys
ENST00000330010.12:c.1124G>A	ENSP00000327363.8:p.Arg375Lys
ENST00000334785.11:c.1316G>A	ENSP00000333938.7:p.Arg439Lys
ENST00000342754.5:c.1015G>A
ENST00000440324.5:c.1274G>A	ENSP00000411902.1:p.Arg425Lys
ENST00000464998.1:n.776G>A
ENST00000480732.2:n.890G>A
NM_001172309.1:c.1124G>A	NP_001165780.1:p.Arg375Lys
NM_144573.3:c.1316G>A , LRG_442t1:c.1316G>A	NP_653174.3:p.Arg439Lys
XM_005271322.2:c.1316G>A	XP_005271379.1:p.Arg439Lys
XM_005271323.2:c.1274G>A	XP_005271380.1:p.Arg425Lys
XM_005271324.3:c.1124G>A	XP_005271381.1:p.Arg375Lys
XM_005271325.2:c.1251+2408G>A	XP_005271382.1:n.1251+2408G>A
XM_005271326.2:c.1082G>A	XP_005271383.1:p.Arg361Lys
XM_005271327.2:c.899G>A	XP_005271384.1:p.Arg300Lys
XM_005271322.4:c.1316G>A	XP_005271379.1:p.Arg439Lys
XM_005271323.4:c.1274G>A	XP_005271380.1:p.Arg425Lys
XM_005271324.5:c.1124G>A	XP_005271381.1:p.Arg375Lys
XM_005271325.4:c.1251+2408G>A	XP_005271382.1:n.1251+2408G>A
XM_005271326.4:c.1082G>A	XP_005271383.1:p.Arg361Lys
XM_005271327.4:c.899G>A	XP_005271384.1:p.Arg300Lys
NM_001172309.2:c.1124G>A	NP_001165780.1:p.Arg375Lys
NM_144573.4:c.1316G>A MANE Select	NP_653174.3:p.Arg439Lys