Canonical Allele Identifier: CA129603
Gene: NEXN HGNC NCBI

Linked Data

ClinVar Variation Id: 30993
ClinVar RCV Id: RCV000023984
dbSNP Id: rs387907079
ExAC: 1:78383902 C / G
gnomAD v2: 1-78383902-C-G
gnomAD v3: 1-77918217-C-G
gnomAD v4: 1-77918217-C-G
MyVariant Identifiers: chr1:g.78383902C>G (hg19) chr1:g.77918217C>G (hg38)
PubMed: PMID:20970104
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77918217C>G , CM000663.2:g.77918217C>G GRCh38
NC_000001.10:g.78383902C>G , CM000663.1:g.78383902C>G GRCh37
NC_000001.9:g.78156490C>G NCBI36
NG_016625.1:g.34703C>G , LRG_442:g.34703C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000334785.12:c.391C>G MANE Select ENSP00000333938.7:p.Gln131Glu
ENST00000330010.12:c.199C>G ENSP00000327363.8:p.Gln67Glu
ENST00000334785.11:c.391C>G ENSP00000333938.7:p.Gln131Glu
ENST00000342754.5:c.90C>G
ENST00000401035.7:c.199C>G ENSP00000383814.3:p.Gln67Glu
ENST00000440324.5:c.391C>G ENSP00000411902.1:p.Gln131Glu
NM_001172309.1:c.199C>G NP_001165780.1:p.Gln67Glu
NM_144573.3:c.391C>G , LRG_442t1:c.391C>G NP_653174.3:p.Gln131Glu
XM_005271322.2:c.391C>G XP_005271379.1:p.Gln131Glu
XM_005271323.2:c.391C>G XP_005271380.1:p.Gln131Glu
XM_005271324.3:c.199C>G XP_005271381.1:p.Gln67Glu
XM_005271325.2:c.391C>G XP_005271382.1:p.Gln131Glu
XM_005271326.2:c.199C>G XP_005271383.1:p.Gln67Glu
XM_005271327.2:c.391C>G XP_005271384.1:p.Gln131Glu
XM_005271322.4:c.391C>G XP_005271379.1:p.Gln131Glu
XM_005271323.4:c.391C>G XP_005271380.1:p.Gln131Glu
XM_005271324.5:c.199C>G XP_005271381.1:p.Gln67Glu
XM_005271325.4:c.391C>G XP_005271382.1:p.Gln131Glu
XM_005271326.4:c.199C>G XP_005271383.1:p.Gln67Glu
XM_005271327.4:c.391C>G XP_005271384.1:p.Gln131Glu
NM_001172309.2:c.199C>G NP_001165780.1:p.Gln67Glu
NM_144573.4:c.391C>G MANE Select NP_653174.3:p.Gln131Glu
Search 100 bp 5'
Search 100 bp 3'