Canonical Allele Identifier: CA129810
Gene: ERCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 68752
ClinVar RCV Id: RCV000024268 RCV000059645
dbSNP Id: rs281875221
MyVariant Identifiers: chr5:g.60183306C>A (hg19) chr5:g.60887479C>A (hg38)
PubMed: PMID:19329487
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60887479C>A , CM000667.2:g.60887479C>A GRCh38
NC_000005.9:g.60183306C>A , CM000667.1:g.60183306C>A GRCh37
NC_000005.8:g.60219063C>A NCBI36
NG_009289.1:g.62600G>T , LRG_466:g.62600G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000439176.6:c.855+10797G>T ENSP00000408344.2:n.855+10797G>T
ENST00000647431.2:c.1184G>T ENSP00000494726.2:n.1184G>T
ENST00000675042.2:c.909G>T ENSP00000502082.2:p.Trp303Cys
ENST00000675452.2:c.*1048G>T ENSP00000506954.1:n.*1048G>T
ENST00000682217.1:c.885G>T ENSP00000507570.1:p.Trp295Cys
ENST00000682375.1:c.*913G>T ENSP00000507551.1:n.*913G>T
ENST00000683052.1:c.885G>T ENSP00000507072.1:p.Trp295Cys
ENST00000683216.1:n.4720G>T
ENST00000683460.1:c.*2520G>T ENSP00000507820.1:n.*2520G>T
ENST00000683688.1:n.2829G>T
ENST00000684621.1:n.941G>T
ENST00000265038.10:c.1140G>T ENSP00000265038.6:p.Trp380Cys
ENST00000643034.1:c.*975G>T ENSP00000496080.1:n.*975G>T
ENST00000643708.1:c.*913G>T ENSP00000494199.1:n.*913G>T
ENST00000647431.1:c.1135G>T
ENST00000675378.1:c.*84G>T ENSP00000502535.1:n.*84G>T
ENST00000675452.1:n.1332G>T
ENST00000676185.1:c.1083G>T MANE Select ENSP00000501614.1:p.Trp361Cys
ENST00000265038.9:c.1083G>T ENSP00000265038.5:p.Trp361Cys
ENST00000381118.7:c.*1127G>T ENSP00000370510.3:n.*1127G>T
ENST00000462279.5:n.2535G>T
NM_000082.3:c.1083G>T , LRG_466t1:c.1083G>T NP_000073.1:p.Trp361Cys
NM_001007233.2:c.909G>T NP_001007234.1:p.Trp303Cys
NM_001290285.1:c.624G>T NP_001277214.1:p.Trp208Cys
NM_000082.4:c.1083G>T MANE Select NP_000073.1:p.Trp361Cys
NM_001007233.3:c.909G>T NP_001007234.1:p.Trp303Cys
NM_001290285.2:c.624G>T NP_001277214.1:p.Trp208Cys
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