Canonical Allele Identifier: CA918920

Gene: NEXN

Linked Data

• ClinVar Variation Id: 870088
• ClinVar RCV Id: RCV001089628 ; RCV001301329 ; RCV002402489
• dbSNP Id: rs759726867
• ExAC: 1:78407763 A / G
• gnomAD v2: 1-78407763-A-G
• gnomAD v3: 1-77942078-A-G
• gnomAD v4: 1-77942078-A-G
• MyVariant Identifiers: chr1:g.78407763A>G (hg19) ; chr1:g.77942078A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942078A>G , CM000663.2:g.77942078A>G	GRCh38
NC_000001.10:g.78407763A>G , CM000663.1:g.78407763A>G	GRCh37
NC_000001.9:g.78180351A>G	NCBI36
NG_016625.1:g.58564A>G , LRG_442:g.58564A>G
NG_033243.2:g.42016T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1529A>G MANE Select	ENSP00000333938.7:p.Lys510Arg
ENST00000330010.12:c.1337A>G	ENSP00000327363.8:p.Lys446Arg
ENST00000334785.11:c.1529A>G	ENSP00000333938.7:p.Lys510Arg
ENST00000342754.5:c.1228A>G
ENST00000470735.1:n.368A>G
ENST00000480732.2:n.1103A>G
NM_001172309.1:c.1337A>G	NP_001165780.1:p.Lys446Arg
NM_144573.3:c.1529A>G , LRG_442t1:c.1529A>G	NP_653174.3:p.Lys510Arg
XM_005271322.2:c.1529A>G	XP_005271379.1:p.Lys510Arg
XM_005271323.2:c.1487A>G	XP_005271380.1:p.Lys496Arg
XM_005271324.3:c.1337A>G	XP_005271381.1:p.Lys446Arg
XM_005271325.2:c.1307A>G	XP_005271382.1:p.Lys436Arg
XM_005271326.2:c.1295A>G	XP_005271383.1:p.Lys432Arg
XM_005271327.2:c.1112A>G	XP_005271384.1:p.Lys371Arg
XM_005271322.4:c.1529A>G	XP_005271379.1:p.Lys510Arg
XM_005271323.4:c.1487A>G	XP_005271380.1:p.Lys496Arg
XM_005271324.5:c.1337A>G	XP_005271381.1:p.Lys446Arg
XM_005271325.4:c.1307A>G	XP_005271382.1:p.Lys436Arg
XM_005271326.4:c.1295A>G	XP_005271383.1:p.Lys432Arg
XM_005271327.4:c.1112A>G	XP_005271384.1:p.Lys371Arg
NM_001172309.2:c.1337A>G	NP_001165780.1:p.Lys446Arg
NM_144573.4:c.1529A>G MANE Select	NP_653174.3:p.Lys510Arg