Canonical Allele Identifier: CA142107

Gene: NEXN

Linked Data

• ClinVar Variation Id: 47888
• ClinVar RCV Id: RCV001215702 ; RCV000041158
• dbSNP Id: rs397517844
• ExAC: 1:78401622 G / A
• gnomAD v2: 1-78401622-G-A
• gnomAD v3: 1-77935937-G-A
• gnomAD v4: 1-77935937-G-A
• MyVariant Identifiers: chr1:g.78401622G>A (hg19) ; chr1:g.77935937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935937G>A , CM000663.2:g.77935937G>A	GRCh38
NC_000001.10:g.78401622G>A , CM000663.1:g.78401622G>A	GRCh37
NC_000001.9:g.78174210G>A	NCBI36
NG_016625.1:g.52423G>A , LRG_442:g.52423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1366G>A MANE Select	ENSP00000333938.7:p.Gly456Arg
ENST00000330010.12:c.1174G>A	ENSP00000327363.8:p.Gly392Arg
ENST00000334785.11:c.1366G>A	ENSP00000333938.7:p.Gly456Arg
ENST00000342754.5:c.1065G>A
ENST00000464998.1:n.826G>A
ENST00000480732.2:n.940G>A
NM_001172309.1:c.1174G>A	NP_001165780.1:p.Gly392Arg
NM_144573.3:c.1366G>A , LRG_442t1:c.1366G>A	NP_653174.3:p.Gly456Arg
XM_005271322.2:c.1366G>A	XP_005271379.1:p.Gly456Arg
XM_005271323.2:c.1324G>A	XP_005271380.1:p.Gly442Arg
XM_005271324.3:c.1174G>A	XP_005271381.1:p.Gly392Arg
XM_005271325.2:c.1251+2458G>A	XP_005271382.1:n.1251+2458G>A
XM_005271326.2:c.1132G>A	XP_005271383.1:p.Gly378Arg
XM_005271327.2:c.949G>A	XP_005271384.1:p.Gly317Arg
XM_005271322.4:c.1366G>A	XP_005271379.1:p.Gly456Arg
XM_005271323.4:c.1324G>A	XP_005271380.1:p.Gly442Arg
XM_005271324.5:c.1174G>A	XP_005271381.1:p.Gly392Arg
XM_005271325.4:c.1251+2458G>A	XP_005271382.1:n.1251+2458G>A
XM_005271326.4:c.1132G>A	XP_005271383.1:p.Gly378Arg
XM_005271327.4:c.949G>A	XP_005271384.1:p.Gly317Arg
NM_001172309.2:c.1174G>A	NP_001165780.1:p.Gly392Arg
NM_144573.4:c.1366G>A MANE Select	NP_653174.3:p.Gly456Arg