Canonical Allele Identifier: CA340879386

Gene: NEXN

Linked Data

• gnomAD v4: 1-77936010-A-G
• MyVariant Identifiers: chr1:g.78401695A>G (hg19) ; chr1:g.77936010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936010A>G , CM000663.2:g.77936010A>G	GRCh38
NC_000001.10:g.78401695A>G , CM000663.1:g.78401695A>G	GRCh37
NC_000001.9:g.78174283A>G	NCBI36
NG_016625.1:g.52496A>G , LRG_442:g.52496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1439A>G MANE Select	ENSP00000333938.7:p.Glu480Gly
ENST00000330010.12:c.1247A>G	ENSP00000327363.8:p.Glu416Gly
ENST00000334785.11:c.1439A>G	ENSP00000333938.7:p.Glu480Gly
ENST00000342754.5:c.1138A>G
ENST00000480732.2:n.1013A>G
NM_001172309.1:c.1247A>G	NP_001165780.1:p.Glu416Gly
NM_144573.3:c.1439A>G , LRG_442t1:c.1439A>G	NP_653174.3:p.Glu480Gly
XM_005271322.2:c.1439A>G	XP_005271379.1:p.Glu480Gly
XM_005271323.2:c.1397A>G	XP_005271380.1:p.Glu466Gly
XM_005271324.3:c.1247A>G	XP_005271381.1:p.Glu416Gly
XM_005271325.2:c.1251+2531A>G	XP_005271382.1:n.1251+2531A>G
XM_005271326.2:c.1205A>G	XP_005271383.1:p.Glu402Gly
XM_005271327.2:c.1022A>G	XP_005271384.1:p.Glu341Gly
XM_005271322.4:c.1439A>G	XP_005271379.1:p.Glu480Gly
XM_005271323.4:c.1397A>G	XP_005271380.1:p.Glu466Gly
XM_005271324.5:c.1247A>G	XP_005271381.1:p.Glu416Gly
XM_005271325.4:c.1251+2531A>G	XP_005271382.1:n.1251+2531A>G
XM_005271326.4:c.1205A>G	XP_005271383.1:p.Glu402Gly
XM_005271327.4:c.1022A>G	XP_005271384.1:p.Glu341Gly
NM_001172309.2:c.1247A>G	NP_001165780.1:p.Glu416Gly
NM_144573.4:c.1439A>G MANE Select	NP_653174.3:p.Glu480Gly