Canonical Allele Identifier: CA359822262

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 558388
• ClinVar RCV Id: RCV000674649
• dbSNP Id: rs1482664387
• gnomAD v3: 5-60887439-C-T
• gnomAD v4: 5-60887439-C-T
• MyVariant Identifiers: chr5:g.60183266C>T (hg19) ; chr5:g.60887439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887439C>T , CM000667.2:g.60887439C>T	GRCh38
NC_000005.9:g.60183266C>T , CM000667.1:g.60183266C>T	GRCh37
NC_000005.8:g.60219023C>T	NCBI36
NG_009289.1:g.62640G>A , LRG_466:g.62640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10837G>A	ENSP00000408344.2:n.855+10837G>A
ENST00000647431.2:c.1223+1G>A	ENSP00000494726.2:n.1223+1G>A
ENST00000675042.2:c.948+1G>A	ENSP00000502082.2:n.948+1G>A
ENST00000675452.2:c.*1087+1G>A	ENSP00000506954.1:n.*1087+1G>A
ENST00000682217.1:c.924+1G>A	ENSP00000507570.1:n.924+1G>A
ENST00000682375.1:c.*952+1G>A	ENSP00000507551.1:n.*952+1G>A
ENST00000683052.1:c.924+1G>A	ENSP00000507072.1:n.924+1G>A
ENST00000683216.1:n.4759+1G>A
ENST00000683460.1:c.*2559+1G>A	ENSP00000507820.1:n.*2559+1G>A
ENST00000683688.1:n.2869G>A
ENST00000684621.1:n.981G>A
ENST00000265038.10:c.1179+1G>A	ENSP00000265038.6:n.1179+1G>A
ENST00000643034.1:c.*1014+1G>A	ENSP00000496080.1:n.*1014+1G>A
ENST00000643708.1:c.*952+1G>A	ENSP00000494199.1:n.*952+1G>A
ENST00000647431.1:c.1174+1G>A
ENST00000675378.1:c.*123+1G>A	ENSP00000502535.1:n.*123+1G>A
ENST00000675452.1:n.1371+1G>A
ENST00000676185.1:c.1122+1G>A MANE Select	ENSP00000501614.1:n.1122+1G>A
ENST00000265038.9:c.1122+1G>A	ENSP00000265038.5:n.1122+1G>A
ENST00000381118.7:c.*1166+1G>A	ENSP00000370510.3:n.*1166+1G>A
ENST00000462279.5:n.2574+1G>A
NM_000082.3:c.1122+1G>A , LRG_466t1:c.1122+1G>A	NP_000073.1:n.1122+1G>A
NM_001007233.2:c.948+1G>A	NP_001007234.1:n.948+1G>A
NM_001290285.1:c.663+1G>A	NP_001277214.1:n.663+1G>A
NM_000082.4:c.1122+1G>A MANE Select	NP_000073.1:n.1122+1G>A
NM_001007233.3:c.948+1G>A	NP_001007234.1:n.948+1G>A
NM_001290285.2:c.663+1G>A	NP_001277214.1:n.663+1G>A