Canonical Allele Identifier: CA251925
Gene: ERCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715
ClinVar RCV Id: RCV003330380
dbSNP Id: rs121434323
gnomAD v4: 5-60890964-G-T
MyVariant Identifiers: chr5:g.60186791G>T (hg19) chr5:g.60890964G>T (hg38)
PubMed: PMID:7664335 PMID:9338586 PMID:21108394
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60890964G>T , CM000667.2:g.60890964G>T GRCh38
NC_000005.9:g.60186791G>T , CM000667.1:g.60186791G>T GRCh37
NC_000005.8:g.60222548G>T NCBI36
NG_009289.1:g.59115C>A , LRG_466:g.59115C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000439176.6:c.855+7312C>A ENSP00000408344.2:n.855+7312C>A
ENST00000647431.2:c.1067C>A ENSP00000494726.2:n.1067C>A
ENST00000647486.2:c.1237C>A ENSP00000494466.2:n.1237C>A
ENST00000675042.2:c.792C>A ENSP00000502082.2:p.Tyr264Ter
ENST00000675452.2:c.*931C>A ENSP00000506954.1:n.*931C>A
ENST00000682217.1:c.844-3444C>A ENSP00000507570.1:n.844-3444C>A
ENST00000682375.1:c.*796C>A ENSP00000507551.1:n.*796C>A
ENST00000683052.1:c.768C>A ENSP00000507072.1:p.Tyr256Ter
ENST00000683199.1:n.988C>A
ENST00000683216.1:n.1235C>A
ENST00000683460.1:c.*2403C>A ENSP00000507820.1:n.*2403C>A
ENST00000684453.1:n.2623C>A
ENST00000684621.1:n.900-3444C>A
ENST00000265038.10:c.1023C>A ENSP00000265038.6:p.Tyr341Ter
ENST00000643034.1:c.*858C>A ENSP00000496080.1:n.*858C>A
ENST00000643708.1:c.*796C>A ENSP00000494199.1:n.*796C>A
ENST00000647431.1:c.1018C>A
ENST00000647486.1:c.1188C>A
ENST00000675378.1:c.966C>A ENSP00000502535.1:p.Tyr322Ter
ENST00000675452.1:n.1215C>A
ENST00000676185.1:c.966C>A MANE Select ENSP00000501614.1:p.Tyr322Ter
ENST00000265038.9:c.966C>A ENSP00000265038.5:p.Tyr322Ter
ENST00000381118.7:c.*1010C>A ENSP00000370510.3:n.*1010C>A
ENST00000462279.5:n.2418C>A
NM_000082.3:c.966C>A , LRG_466t1:c.966C>A NP_000073.1:p.Tyr322Ter
NM_001007233.2:c.792C>A NP_001007234.1:p.Tyr264Ter
NM_001290285.1:c.507C>A NP_001277214.1:p.Tyr169Ter
NM_000082.4:c.966C>A MANE Select NP_000073.1:p.Tyr322Ter
NM_001007233.3:c.792C>A NP_001007234.1:p.Tyr264Ter
NM_001290285.2:c.507C>A NP_001277214.1:p.Tyr169Ter
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