Canonical Allele Identifier: CA918942

Gene: NEXN

Linked Data

• dbSNP Id: rs773258784
• ExAC: 1:78407868 G / A
• gnomAD v2: 1-78407868-G-A
• gnomAD v4: 1-77942183-G-A
• MyVariant Identifiers: chr1:g.78407868G>A (hg19) ; chr1:g.77942183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942183G>A , CM000663.2:g.77942183G>A	GRCh38
NC_000001.10:g.78407868G>A , CM000663.1:g.78407868G>A	GRCh37
NC_000001.9:g.78180456G>A	NCBI36
NG_016625.1:g.58669G>A , LRG_442:g.58669G>A
NG_033243.2:g.41911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1634G>A MANE Select	ENSP00000333938.7:p.Arg545Lys
ENST00000330010.12:c.1442G>A	ENSP00000327363.8:p.Arg481Lys
ENST00000334785.11:c.1634G>A	ENSP00000333938.7:p.Arg545Lys
ENST00000342754.5:c.1333G>A
ENST00000470735.1:n.473G>A
ENST00000480732.2:n.1208G>A
NM_001172309.1:c.1442G>A	NP_001165780.1:p.Arg481Lys
NM_144573.3:c.1634G>A , LRG_442t1:c.1634G>A	NP_653174.3:p.Arg545Lys
XM_005271322.2:c.1634G>A	XP_005271379.1:p.Arg545Lys
XM_005271323.2:c.1592G>A	XP_005271380.1:p.Arg531Lys
XM_005271324.3:c.1442G>A	XP_005271381.1:p.Arg481Lys
XM_005271325.2:c.1412G>A	XP_005271382.1:p.Arg471Lys
XM_005271326.2:c.1400G>A	XP_005271383.1:p.Arg467Lys
XM_005271327.2:c.1217G>A	XP_005271384.1:p.Arg406Lys
XM_005271322.4:c.1634G>A	XP_005271379.1:p.Arg545Lys
XM_005271323.4:c.1592G>A	XP_005271380.1:p.Arg531Lys
XM_005271324.5:c.1442G>A	XP_005271381.1:p.Arg481Lys
XM_005271325.4:c.1412G>A	XP_005271382.1:p.Arg471Lys
XM_005271326.4:c.1400G>A	XP_005271383.1:p.Arg467Lys
XM_005271327.4:c.1217G>A	XP_005271384.1:p.Arg406Lys
NM_001172309.2:c.1442G>A	NP_001165780.1:p.Arg481Lys
NM_144573.4:c.1634G>A MANE Select	NP_653174.3:p.Arg545Lys