Canonical Allele Identifier: CA340879348

Gene: NEXN

Linked Data

• ClinVar Variation Id: 470678
• ClinVar RCV Id: RCV000559091
• dbSNP Id: rs1553240667
• MyVariant Identifiers: chr1:g.78401685A>G (hg19) ; chr1:g.77936000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936000A>G , CM000663.2:g.77936000A>G	GRCh38
NC_000001.10:g.78401685A>G , CM000663.1:g.78401685A>G	GRCh37
NC_000001.9:g.78174273A>G	NCBI36
NG_016625.1:g.52486A>G , LRG_442:g.52486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1429A>G MANE Select	ENSP00000333938.7:p.Ile477Val
ENST00000330010.12:c.1237A>G	ENSP00000327363.8:p.Ile413Val
ENST00000334785.11:c.1429A>G	ENSP00000333938.7:p.Ile477Val
ENST00000342754.5:c.1128A>G
ENST00000480732.2:n.1003A>G
NM_001172309.1:c.1237A>G	NP_001165780.1:p.Ile413Val
NM_144573.3:c.1429A>G , LRG_442t1:c.1429A>G	NP_653174.3:p.Ile477Val
XM_005271322.2:c.1429A>G	XP_005271379.1:p.Ile477Val
XM_005271323.2:c.1387A>G	XP_005271380.1:p.Ile463Val
XM_005271324.3:c.1237A>G	XP_005271381.1:p.Ile413Val
XM_005271325.2:c.1251+2521A>G	XP_005271382.1:n.1251+2521A>G
XM_005271326.2:c.1195A>G	XP_005271383.1:p.Ile399Val
XM_005271327.2:c.1012A>G	XP_005271384.1:p.Ile338Val
XM_005271322.4:c.1429A>G	XP_005271379.1:p.Ile477Val
XM_005271323.4:c.1387A>G	XP_005271380.1:p.Ile463Val
XM_005271324.5:c.1237A>G	XP_005271381.1:p.Ile413Val
XM_005271325.4:c.1251+2521A>G	XP_005271382.1:n.1251+2521A>G
XM_005271326.4:c.1195A>G	XP_005271383.1:p.Ile399Val
XM_005271327.4:c.1012A>G	XP_005271384.1:p.Ile338Val
NM_001172309.2:c.1237A>G	NP_001165780.1:p.Ile413Val
NM_144573.4:c.1429A>G MANE Select	NP_653174.3:p.Ile477Val