Canonical Allele Identifier: CA340878982

Gene: NEXN

Linked Data

• dbSNP Id: rs1322499749
• gnomAD v4: 1-77935931-A-G
• MyVariant Identifiers: chr1:g.78401616A>G (hg19) ; chr1:g.77935931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935931A>G , CM000663.2:g.77935931A>G	GRCh38
NC_000001.10:g.78401616A>G , CM000663.1:g.78401616A>G	GRCh37
NC_000001.9:g.78174204A>G	NCBI36
NG_016625.1:g.52417A>G , LRG_442:g.52417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1360A>G MANE Select	ENSP00000333938.7:p.Lys454Glu
ENST00000330010.12:c.1168A>G	ENSP00000327363.8:p.Lys390Glu
ENST00000334785.11:c.1360A>G	ENSP00000333938.7:p.Lys454Glu
ENST00000342754.5:c.1059A>G
ENST00000464998.1:n.820A>G
ENST00000480732.2:n.934A>G
NM_001172309.1:c.1168A>G	NP_001165780.1:p.Lys390Glu
NM_144573.3:c.1360A>G , LRG_442t1:c.1360A>G	NP_653174.3:p.Lys454Glu
XM_005271322.2:c.1360A>G	XP_005271379.1:p.Lys454Glu
XM_005271323.2:c.1318A>G	XP_005271380.1:p.Lys440Glu
XM_005271324.3:c.1168A>G	XP_005271381.1:p.Lys390Glu
XM_005271325.2:c.1251+2452A>G	XP_005271382.1:n.1251+2452A>G
XM_005271326.2:c.1126A>G	XP_005271383.1:p.Lys376Glu
XM_005271327.2:c.943A>G	XP_005271384.1:p.Lys315Glu
XM_005271322.4:c.1360A>G	XP_005271379.1:p.Lys454Glu
XM_005271323.4:c.1318A>G	XP_005271380.1:p.Lys440Glu
XM_005271324.5:c.1168A>G	XP_005271381.1:p.Lys390Glu
XM_005271325.4:c.1251+2452A>G	XP_005271382.1:n.1251+2452A>G
XM_005271326.4:c.1126A>G	XP_005271383.1:p.Lys376Glu
XM_005271327.4:c.943A>G	XP_005271384.1:p.Lys315Glu
NM_001172309.2:c.1168A>G	NP_001165780.1:p.Lys390Glu
NM_144573.4:c.1360A>G MANE Select	NP_653174.3:p.Lys454Glu