Canonical Allele Identifier: CA3277626

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 354013
• ClinVar RCV Id: RCV000310103 ; RCV000951221
• dbSNP Id: rs543291626
• ExAC: 5:60183284 C / G
• gnomAD v2: 5-60183284-C-G
• gnomAD v3: 5-60887457-C-G
• gnomAD v4: 5-60887457-C-G
• MyVariant Identifiers: chr5:g.60183284C>G (hg19) ; chr5:g.60887457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887457C>G , CM000667.2:g.60887457C>G	GRCh38
NC_000005.9:g.60183284C>G , CM000667.1:g.60183284C>G	GRCh37
NC_000005.8:g.60219041C>G	NCBI36
NG_009289.1:g.62622G>C , LRG_466:g.62622G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10819G>C	ENSP00000408344.2:n.855+10819G>C
ENST00000647431.2:c.1206G>C	ENSP00000494726.2:n.1206G>C
ENST00000675042.2:c.931G>C	ENSP00000502082.2:p.Val311Leu
ENST00000675452.2:c.*1070G>C	ENSP00000506954.1:n.*1070G>C
ENST00000682217.1:c.907G>C	ENSP00000507570.1:p.Val303Leu
ENST00000682375.1:c.*935G>C	ENSP00000507551.1:n.*935G>C
ENST00000683052.1:c.907G>C	ENSP00000507072.1:p.Val303Leu
ENST00000683216.1:n.4742G>C
ENST00000683460.1:c.*2542G>C	ENSP00000507820.1:n.*2542G>C
ENST00000683688.1:n.2851G>C
ENST00000684621.1:n.963G>C
ENST00000265038.10:c.1162G>C	ENSP00000265038.6:p.Val388Leu
ENST00000643034.1:c.*997G>C	ENSP00000496080.1:n.*997G>C
ENST00000643708.1:c.*935G>C	ENSP00000494199.1:n.*935G>C
ENST00000647431.1:c.1157G>C
ENST00000675378.1:c.*106G>C	ENSP00000502535.1:n.*106G>C
ENST00000675452.1:n.1354G>C
ENST00000676185.1:c.1105G>C MANE Select	ENSP00000501614.1:p.Val369Leu
ENST00000265038.9:c.1105G>C	ENSP00000265038.5:p.Val369Leu
ENST00000381118.7:c.*1149G>C	ENSP00000370510.3:n.*1149G>C
ENST00000462279.5:n.2557G>C
NM_000082.3:c.1105G>C , LRG_466t1:c.1105G>C	NP_000073.1:p.Val369Leu
NM_001007233.2:c.931G>C	NP_001007234.1:p.Val311Leu
NM_001290285.1:c.646G>C	NP_001277214.1:p.Val216Leu
NM_000082.4:c.1105G>C MANE Select	NP_000073.1:p.Val369Leu
NM_001007233.3:c.931G>C	NP_001007234.1:p.Val311Leu
NM_001290285.2:c.646G>C	NP_001277214.1:p.Val216Leu