Canonical Allele Identifier: CA918882

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1698041
• ClinVar RCV Id: RCV002269464
• dbSNP Id: rs753979244
• ExAC: 1:78401725 A / G
• gnomAD v2: 1-78401725-A-G
• gnomAD v3: 1-77936040-A-G
• gnomAD v4: 1-77936040-A-G
• MyVariant Identifiers: chr1:g.78401725A>G (hg19) ; chr1:g.77936040A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936040A>G , CM000663.2:g.77936040A>G	GRCh38
NC_000001.10:g.78401725A>G , CM000663.1:g.78401725A>G	GRCh37
NC_000001.9:g.78174313A>G	NCBI36
NG_016625.1:g.52526A>G , LRG_442:g.52526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1469A>G MANE Select	ENSP00000333938.7:p.His490Arg
ENST00000330010.12:c.1277A>G	ENSP00000327363.8:p.His426Arg
ENST00000334785.11:c.1469A>G	ENSP00000333938.7:p.His490Arg
ENST00000342754.5:c.1168A>G
ENST00000480732.2:n.1043A>G
NM_001172309.1:c.1277A>G	NP_001165780.1:p.His426Arg
NM_144573.3:c.1469A>G , LRG_442t1:c.1469A>G	NP_653174.3:p.His490Arg
XM_005271322.2:c.1469A>G	XP_005271379.1:p.His490Arg
XM_005271323.2:c.1427A>G	XP_005271380.1:p.His476Arg
XM_005271324.3:c.1277A>G	XP_005271381.1:p.His426Arg
XM_005271325.2:c.1251+2561A>G	XP_005271382.1:n.1251+2561A>G
XM_005271326.2:c.1235A>G	XP_005271383.1:p.His412Arg
XM_005271327.2:c.1052A>G	XP_005271384.1:p.His351Arg
XM_005271322.4:c.1469A>G	XP_005271379.1:p.His490Arg
XM_005271323.4:c.1427A>G	XP_005271380.1:p.His476Arg
XM_005271324.5:c.1277A>G	XP_005271381.1:p.His426Arg
XM_005271325.4:c.1251+2561A>G	XP_005271382.1:n.1251+2561A>G
XM_005271326.4:c.1235A>G	XP_005271383.1:p.His412Arg
XM_005271327.4:c.1052A>G	XP_005271384.1:p.His351Arg
NM_001172309.2:c.1277A>G	NP_001165780.1:p.His426Arg
NM_144573.4:c.1469A>G MANE Select	NP_653174.3:p.His490Arg