Canonical Allele Identifier: CA181124

Gene: NEXN

Linked Data

• ClinVar Variation Id: 138511
• ClinVar RCV Id: RCV000154659 ; RCV000204884 ; RCV000245536 ; RCV001170729
• dbSNP Id: rs35366555
• ExAC: 1:78401664 G / C
• gnomAD v2: 1-78401664-G-C
• gnomAD v3: 1-77935979-G-C
• gnomAD v4: 1-77935979-G-C
• MyVariant Identifiers: chr1:g.78401664G>C (hg19) ; chr1:g.77935979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935979G>C , CM000663.2:g.77935979G>C	GRCh38
NC_000001.10:g.78401664G>C , CM000663.1:g.78401664G>C	GRCh37
NC_000001.9:g.78174252G>C	NCBI36
NG_016625.1:g.52465G>C , LRG_442:g.52465G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1408G>C MANE Select	ENSP00000333938.7:p.Glu470Gln
ENST00000330010.12:c.1216G>C	ENSP00000327363.8:p.Glu406Gln
ENST00000334785.11:c.1408G>C	ENSP00000333938.7:p.Glu470Gln
ENST00000342754.5:c.1107G>C
ENST00000480732.2:n.982G>C
NM_001172309.1:c.1216G>C	NP_001165780.1:p.Glu406Gln
NM_144573.3:c.1408G>C , LRG_442t1:c.1408G>C	NP_653174.3:p.Glu470Gln
XM_005271322.2:c.1408G>C	XP_005271379.1:p.Glu470Gln
XM_005271323.2:c.1366G>C	XP_005271380.1:p.Glu456Gln
XM_005271324.3:c.1216G>C	XP_005271381.1:p.Glu406Gln
XM_005271325.2:c.1251+2500G>C	XP_005271382.1:n.1251+2500G>C
XM_005271326.2:c.1174G>C	XP_005271383.1:p.Glu392Gln
XM_005271327.2:c.991G>C	XP_005271384.1:p.Glu331Gln
XM_005271322.4:c.1408G>C	XP_005271379.1:p.Glu470Gln
XM_005271323.4:c.1366G>C	XP_005271380.1:p.Glu456Gln
XM_005271324.5:c.1216G>C	XP_005271381.1:p.Glu406Gln
XM_005271325.4:c.1251+2500G>C	XP_005271382.1:n.1251+2500G>C
XM_005271326.4:c.1174G>C	XP_005271383.1:p.Glu392Gln
XM_005271327.4:c.991G>C	XP_005271384.1:p.Glu331Gln
NM_001172309.2:c.1216G>C	NP_001165780.1:p.Glu406Gln
NM_144573.4:c.1408G>C MANE Select	NP_653174.3:p.Glu470Gln