Canonical Allele Identifier: CA340881621

Gene: NEXN

Linked Data

• dbSNP Id: rs1465710362
• gnomAD v2: 1-78407878-T-G
• gnomAD v4: 1-77942193-T-G
• MyVariant Identifiers: chr1:g.78407878T>G (hg19) ; chr1:g.77942193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942193T>G , CM000663.2:g.77942193T>G	GRCh38
NC_000001.10:g.78407878T>G , CM000663.1:g.78407878T>G	GRCh37
NC_000001.9:g.78180466T>G	NCBI36
NG_016625.1:g.58679T>G , LRG_442:g.58679T>G
NG_033243.2:g.41901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1644T>G MANE Select	ENSP00000333938.7:p.Asp548Glu
ENST00000330010.12:c.1452T>G	ENSP00000327363.8:p.Asp484Glu
ENST00000334785.11:c.1644T>G	ENSP00000333938.7:p.Asp548Glu
ENST00000342754.5:c.1343T>G
ENST00000470735.1:n.483T>G
ENST00000480732.2:n.1218T>G
NM_001172309.1:c.1452T>G	NP_001165780.1:p.Asp484Glu
NM_144573.3:c.1644T>G , LRG_442t1:c.1644T>G	NP_653174.3:p.Asp548Glu
XM_005271322.2:c.1644T>G	XP_005271379.1:p.Asp548Glu
XM_005271323.2:c.1602T>G	XP_005271380.1:p.Asp534Glu
XM_005271324.3:c.1452T>G	XP_005271381.1:p.Asp484Glu
XM_005271325.2:c.1422T>G	XP_005271382.1:p.Asp474Glu
XM_005271326.2:c.1410T>G	XP_005271383.1:p.Asp470Glu
XM_005271327.2:c.1227T>G	XP_005271384.1:p.Asp409Glu
XM_005271322.4:c.1644T>G	XP_005271379.1:p.Asp548Glu
XM_005271323.4:c.1602T>G	XP_005271380.1:p.Asp534Glu
XM_005271324.5:c.1452T>G	XP_005271381.1:p.Asp484Glu
XM_005271325.4:c.1422T>G	XP_005271382.1:p.Asp474Glu
XM_005271326.4:c.1410T>G	XP_005271383.1:p.Asp470Glu
XM_005271327.4:c.1227T>G	XP_005271384.1:p.Asp409Glu
NM_001172309.2:c.1452T>G	NP_001165780.1:p.Asp484Glu
NM_144573.4:c.1644T>G MANE Select	NP_653174.3:p.Asp548Glu