Canonical Allele Identifier: CA418574053

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1784399
• ClinVar RCV Id: RCV002417336
• dbSNP Id: rs1341932618
• gnomAD v2: 1-78408496-C-A
• gnomAD v4: 1-77942811-C-A
• MyVariant Identifiers: chr1:g.78408496C>A (hg19) ; chr1:g.77942811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942811C>A , CM000663.2:g.77942811C>A	GRCh38
NC_000001.10:g.78408496C>A , CM000663.1:g.78408496C>A	GRCh37
NC_000001.9:g.78181084C>A	NCBI36
NG_016625.1:g.59297C>A , LRG_442:g.59297C>A
NG_033243.2:g.41283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.2010C>A MANE Select	ENSP00000333938.7:p.Thr670=
ENST00000330010.12:c.1818C>A	ENSP00000327363.8:p.Thr606=
ENST00000334785.11:c.2010C>A	ENSP00000333938.7:p.Thr670=
ENST00000342754.5:c.1709C>A
ENST00000480732.2:n.1584C>A
NM_001172309.1:c.1818C>A	NP_001165780.1:p.Thr606=
NM_144573.3:c.2010C>A , LRG_442t1:c.2010C>A	NP_653174.3:p.Thr670=
XM_005271322.2:c.2010C>A	XP_005271379.1:p.Thr670=
XM_005271323.2:c.1968C>A	XP_005271380.1:p.Thr656=
XM_005271324.3:c.1818C>A	XP_005271381.1:p.Thr606=
XM_005271325.2:c.1788C>A	XP_005271382.1:p.Thr596=
XM_005271326.2:c.1776C>A	XP_005271383.1:p.Thr592=
XM_005271327.2:c.1593C>A	XP_005271384.1:p.Thr531=
XM_005271322.4:c.2010C>A	XP_005271379.1:p.Thr670=
XM_005271323.4:c.1968C>A	XP_005271380.1:p.Thr656=
XM_005271324.5:c.1818C>A	XP_005271381.1:p.Thr606=
XM_005271325.4:c.1788C>A	XP_005271382.1:p.Thr596=
XM_005271326.4:c.1776C>A	XP_005271383.1:p.Thr592=
XM_005271327.4:c.1593C>A	XP_005271384.1:p.Thr531=
NM_001172309.2:c.1818C>A	NP_001165780.1:p.Thr606=
NM_144573.4:c.2010C>A MANE Select	NP_653174.3:p.Thr670=