Canonical Allele Identifier: CA918937

Gene: NEXN

Linked Data

• dbSNP Id: rs769850133
• ExAC: 1:78407859 T / G
• gnomAD v2: 1-78407859-T-G
• gnomAD v4: 1-77942174-T-G
• MyVariant Identifiers: chr1:g.78407859T>G (hg19) ; chr1:g.77942174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942174T>G , CM000663.2:g.77942174T>G	GRCh38
NC_000001.10:g.78407859T>G , CM000663.1:g.78407859T>G	GRCh37
NC_000001.9:g.78180447T>G	NCBI36
NG_016625.1:g.58660T>G , LRG_442:g.58660T>G
NG_033243.2:g.41920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1625T>G MANE Select	ENSP00000333938.7:p.Phe542Cys
ENST00000330010.12:c.1433T>G	ENSP00000327363.8:p.Phe478Cys
ENST00000334785.11:c.1625T>G	ENSP00000333938.7:p.Phe542Cys
ENST00000342754.5:c.1324T>G
ENST00000470735.1:n.464T>G
ENST00000480732.2:n.1199T>G
NM_001172309.1:c.1433T>G	NP_001165780.1:p.Phe478Cys
NM_144573.3:c.1625T>G , LRG_442t1:c.1625T>G	NP_653174.3:p.Phe542Cys
XM_005271322.2:c.1625T>G	XP_005271379.1:p.Phe542Cys
XM_005271323.2:c.1583T>G	XP_005271380.1:p.Phe528Cys
XM_005271324.3:c.1433T>G	XP_005271381.1:p.Phe478Cys
XM_005271325.2:c.1403T>G	XP_005271382.1:p.Phe468Cys
XM_005271326.2:c.1391T>G	XP_005271383.1:p.Phe464Cys
XM_005271327.2:c.1208T>G	XP_005271384.1:p.Phe403Cys
XM_005271322.4:c.1625T>G	XP_005271379.1:p.Phe542Cys
XM_005271323.4:c.1583T>G	XP_005271380.1:p.Phe528Cys
XM_005271324.5:c.1433T>G	XP_005271381.1:p.Phe478Cys
XM_005271325.4:c.1403T>G	XP_005271382.1:p.Phe468Cys
XM_005271326.4:c.1391T>G	XP_005271383.1:p.Phe464Cys
XM_005271327.4:c.1208T>G	XP_005271384.1:p.Phe403Cys
NM_001172309.2:c.1433T>G	NP_001165780.1:p.Phe478Cys
NM_144573.4:c.1625T>G MANE Select	NP_653174.3:p.Phe542Cys