Canonical Allele Identifier: CA177492

Gene: NEXN

Linked Data

• ClinVar Variation Id: 164796
• ClinVar RCV Id: RCV000151562 ; RCV002408671
• dbSNP Id: rs727503345
• gnomAD v4: 1-77942574-A-G
• MyVariant Identifiers: chr1:g.78408259A>G (hg19) ; chr1:g.77942574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942574A>G , CM000663.2:g.77942574A>G	GRCh38
NC_000001.10:g.78408259A>G , CM000663.1:g.78408259A>G	GRCh37
NC_000001.9:g.78180847A>G	NCBI36
NG_016625.1:g.59060A>G , LRG_442:g.59060A>G
NG_033243.2:g.41520T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1773A>G MANE Select	ENSP00000333938.7:p.Thr591=
ENST00000330010.12:c.1581A>G	ENSP00000327363.8:p.Thr527=
ENST00000334785.11:c.1773A>G	ENSP00000333938.7:p.Thr591=
ENST00000342754.5:c.1472A>G
ENST00000470735.1:n.612A>G
ENST00000480732.2:n.1347A>G
NM_001172309.1:c.1581A>G	NP_001165780.1:p.Thr527=
NM_144573.3:c.1773A>G , LRG_442t1:c.1773A>G	NP_653174.3:p.Thr591=
XM_005271322.2:c.1773A>G	XP_005271379.1:p.Thr591=
XM_005271323.2:c.1731A>G	XP_005271380.1:p.Thr577=
XM_005271324.3:c.1581A>G	XP_005271381.1:p.Thr527=
XM_005271325.2:c.1551A>G	XP_005271382.1:p.Thr517=
XM_005271326.2:c.1539A>G	XP_005271383.1:p.Thr513=
XM_005271327.2:c.1356A>G	XP_005271384.1:p.Thr452=
XM_005271322.4:c.1773A>G	XP_005271379.1:p.Thr591=
XM_005271323.4:c.1731A>G	XP_005271380.1:p.Thr577=
XM_005271324.5:c.1581A>G	XP_005271381.1:p.Thr527=
XM_005271325.4:c.1551A>G	XP_005271382.1:p.Thr517=
XM_005271326.4:c.1539A>G	XP_005271383.1:p.Thr513=
XM_005271327.4:c.1356A>G	XP_005271384.1:p.Thr452=
NM_001172309.2:c.1581A>G	NP_001165780.1:p.Thr527=
NM_144573.4:c.1773A>G MANE Select	NP_653174.3:p.Thr591=