Canonical Allele Identifier: CA340879424

Gene: NEXN

Linked Data

• gnomAD v4: 1-77936019-A-G
• MyVariant Identifiers: chr1:g.78401704A>G (hg19) ; chr1:g.77936019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936019A>G , CM000663.2:g.77936019A>G	GRCh38
NC_000001.10:g.78401704A>G , CM000663.1:g.78401704A>G	GRCh37
NC_000001.9:g.78174292A>G	NCBI36
NG_016625.1:g.52505A>G , LRG_442:g.52505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1448A>G MANE Select	ENSP00000333938.7:p.Glu483Gly
ENST00000330010.12:c.1256A>G	ENSP00000327363.8:p.Glu419Gly
ENST00000334785.11:c.1448A>G	ENSP00000333938.7:p.Glu483Gly
ENST00000342754.5:c.1147A>G
ENST00000480732.2:n.1022A>G
NM_001172309.1:c.1256A>G	NP_001165780.1:p.Glu419Gly
NM_144573.3:c.1448A>G , LRG_442t1:c.1448A>G	NP_653174.3:p.Glu483Gly
XM_005271322.2:c.1448A>G	XP_005271379.1:p.Glu483Gly
XM_005271323.2:c.1406A>G	XP_005271380.1:p.Glu469Gly
XM_005271324.3:c.1256A>G	XP_005271381.1:p.Glu419Gly
XM_005271325.2:c.1251+2540A>G	XP_005271382.1:n.1251+2540A>G
XM_005271326.2:c.1214A>G	XP_005271383.1:p.Glu405Gly
XM_005271327.2:c.1031A>G	XP_005271384.1:p.Glu344Gly
XM_005271322.4:c.1448A>G	XP_005271379.1:p.Glu483Gly
XM_005271323.4:c.1406A>G	XP_005271380.1:p.Glu469Gly
XM_005271324.5:c.1256A>G	XP_005271381.1:p.Glu419Gly
XM_005271325.4:c.1251+2540A>G	XP_005271382.1:n.1251+2540A>G
XM_005271326.4:c.1214A>G	XP_005271383.1:p.Glu405Gly
XM_005271327.4:c.1031A>G	XP_005271384.1:p.Glu344Gly
NM_001172309.2:c.1256A>G	NP_001165780.1:p.Glu419Gly
NM_144573.4:c.1448A>G MANE Select	NP_653174.3:p.Glu483Gly