Canonical Allele Identifier: CA3277630

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 747455
• ClinVar RCV Id: RCV000924165
• dbSNP Id: rs762230648
• ExAC: 5:60183300 T / G
• gnomAD v2: 5-60183300-T-G
• gnomAD v4: 5-60887473-T-G
• MyVariant Identifiers: chr5:g.60183300T>G (hg19) ; chr5:g.60887473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887473T>G , CM000667.2:g.60887473T>G	GRCh38
NC_000005.9:g.60183300T>G , CM000667.1:g.60183300T>G	GRCh37
NC_000005.8:g.60219057T>G	NCBI36
NG_009289.1:g.62606A>C , LRG_466:g.62606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10803A>C	ENSP00000408344.2:n.855+10803A>C
ENST00000647431.2:c.1190A>C	ENSP00000494726.2:n.1190A>C
ENST00000675042.2:c.915A>C	ENSP00000502082.2:p.Pro305=
ENST00000675452.2:c.*1054A>C	ENSP00000506954.1:n.*1054A>C
ENST00000682217.1:c.891A>C	ENSP00000507570.1:p.Pro297=
ENST00000682375.1:c.*919A>C	ENSP00000507551.1:n.*919A>C
ENST00000683052.1:c.891A>C	ENSP00000507072.1:p.Pro297=
ENST00000683216.1:n.4726A>C
ENST00000683460.1:c.*2526A>C	ENSP00000507820.1:n.*2526A>C
ENST00000683688.1:n.2835A>C
ENST00000684621.1:n.947A>C
ENST00000265038.10:c.1146A>C	ENSP00000265038.6:p.Pro382=
ENST00000643034.1:c.*981A>C	ENSP00000496080.1:n.*981A>C
ENST00000643708.1:c.*919A>C	ENSP00000494199.1:n.*919A>C
ENST00000647431.1:c.1141A>C
ENST00000675378.1:c.*90A>C	ENSP00000502535.1:n.*90A>C
ENST00000675452.1:n.1338A>C
ENST00000676185.1:c.1089A>C MANE Select	ENSP00000501614.1:p.Pro363=
ENST00000265038.9:c.1089A>C	ENSP00000265038.5:p.Pro363=
ENST00000381118.7:c.*1133A>C	ENSP00000370510.3:n.*1133A>C
ENST00000462279.5:n.2541A>C
NM_000082.3:c.1089A>C , LRG_466t1:c.1089A>C	NP_000073.1:p.Pro363=
NM_001007233.2:c.915A>C	NP_001007234.1:p.Pro305=
NM_001290285.1:c.630A>C	NP_001277214.1:p.Pro210=
NM_000082.4:c.1089A>C MANE Select	NP_000073.1:p.Pro363=
NM_001007233.3:c.915A>C	NP_001007234.1:p.Pro305=
NM_001290285.2:c.630A>C	NP_001277214.1:p.Pro210=