Canonical Allele Identifier: CA340879154

Gene: NEXN

Linked Data

• dbSNP Id: rs1486189428
• gnomAD v2: 1-78401638-A-T
• gnomAD v4: 1-77935953-A-T
• MyVariant Identifiers: chr1:g.78401638A>T (hg19) ; chr1:g.77935953A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935953A>T , CM000663.2:g.77935953A>T	GRCh38
NC_000001.10:g.78401638A>T , CM000663.1:g.78401638A>T	GRCh37
NC_000001.9:g.78174226A>T	NCBI36
NG_016625.1:g.52439A>T , LRG_442:g.52439A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1382A>T MANE Select	ENSP00000333938.7:p.Lys461Ile
ENST00000330010.12:c.1190A>T	ENSP00000327363.8:p.Lys397Ile
ENST00000334785.11:c.1382A>T	ENSP00000333938.7:p.Lys461Ile
ENST00000342754.5:c.1081A>T
ENST00000464998.1:n.842A>T
ENST00000480732.2:n.956A>T
NM_001172309.1:c.1190A>T	NP_001165780.1:p.Lys397Ile
NM_144573.3:c.1382A>T , LRG_442t1:c.1382A>T	NP_653174.3:p.Lys461Ile
XM_005271322.2:c.1382A>T	XP_005271379.1:p.Lys461Ile
XM_005271323.2:c.1340A>T	XP_005271380.1:p.Lys447Ile
XM_005271324.3:c.1190A>T	XP_005271381.1:p.Lys397Ile
XM_005271325.2:c.1251+2474A>T	XP_005271382.1:n.1251+2474A>T
XM_005271326.2:c.1148A>T	XP_005271383.1:p.Lys383Ile
XM_005271327.2:c.965A>T	XP_005271384.1:p.Lys322Ile
XM_005271322.4:c.1382A>T	XP_005271379.1:p.Lys461Ile
XM_005271323.4:c.1340A>T	XP_005271380.1:p.Lys447Ile
XM_005271324.5:c.1190A>T	XP_005271381.1:p.Lys397Ile
XM_005271325.4:c.1251+2474A>T	XP_005271382.1:n.1251+2474A>T
XM_005271326.4:c.1148A>T	XP_005271383.1:p.Lys383Ile
XM_005271327.4:c.965A>T	XP_005271384.1:p.Lys322Ile
NM_001172309.2:c.1190A>T	NP_001165780.1:p.Lys397Ile
NM_144573.4:c.1382A>T MANE Select	NP_653174.3:p.Lys461Ile