Canonical Allele Identifier: CA418573456

Gene: NEXN

Linked Data

• dbSNP Id: rs1223011249
• gnomAD v2: 1-78407848-A-G
• gnomAD v4: 1-77942163-A-G
• COSMIC: COSM1344423 ; COSM5093528
• MyVariant Identifiers: chr1:g.78407848A>G (hg19) ; chr1:g.77942163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942163A>G , CM000663.2:g.77942163A>G	GRCh38
NC_000001.10:g.78407848A>G , CM000663.1:g.78407848A>G	GRCh37
NC_000001.9:g.78180436A>G	NCBI36
NG_016625.1:g.58649A>G , LRG_442:g.58649A>G
NG_033243.2:g.41931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1614A>G MANE Select	ENSP00000333938.7:p.Leu538=
ENST00000330010.12:c.1422A>G	ENSP00000327363.8:p.Leu474=
ENST00000334785.11:c.1614A>G	ENSP00000333938.7:p.Leu538=
ENST00000342754.5:c.1313A>G
ENST00000470735.1:n.453A>G
ENST00000480732.2:n.1188A>G
NM_001172309.1:c.1422A>G	NP_001165780.1:p.Leu474=
NM_144573.3:c.1614A>G , LRG_442t1:c.1614A>G	NP_653174.3:p.Leu538=
XM_005271322.2:c.1614A>G	XP_005271379.1:p.Leu538=
XM_005271323.2:c.1572A>G	XP_005271380.1:p.Leu524=
XM_005271324.3:c.1422A>G	XP_005271381.1:p.Leu474=
XM_005271325.2:c.1392A>G	XP_005271382.1:p.Leu464=
XM_005271326.2:c.1380A>G	XP_005271383.1:p.Leu460=
XM_005271327.2:c.1197A>G	XP_005271384.1:p.Leu399=
XM_005271322.4:c.1614A>G	XP_005271379.1:p.Leu538=
XM_005271323.4:c.1572A>G	XP_005271380.1:p.Leu524=
XM_005271324.5:c.1422A>G	XP_005271381.1:p.Leu474=
XM_005271325.4:c.1392A>G	XP_005271382.1:p.Leu464=
XM_005271326.4:c.1380A>G	XP_005271383.1:p.Leu460=
XM_005271327.4:c.1197A>G	XP_005271384.1:p.Leu399=
NM_001172309.2:c.1422A>G	NP_001165780.1:p.Leu474=
NM_144573.4:c.1614A>G MANE Select	NP_653174.3:p.Leu538=