Canonical Allele Identifier: CA444462598

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 2901452
• ClinVar RCV Id: RCV003731287
• dbSNP Id: rs1748427813
• MyVariant Identifiers: chr5:g.60183273A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887446A>G , CM000667.2:g.60887446A>G	GRCh38
NC_000005.9:g.60183273A>G , CM000667.1:g.60183273A>G	GRCh37
NC_000005.8:g.60219030A>G	NCBI36
NG_009289.1:g.62633T>C , LRG_466:g.62633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10830T>C	ENSP00000408344.2:n.855+10830T>C
ENST00000647431.2:c.1217T>C	ENSP00000494726.2:n.1217T>C
ENST00000675042.2:c.942T>C	ENSP00000502082.2:p.Asp314=
ENST00000675452.2:c.*1081T>C	ENSP00000506954.1:n.*1081T>C
ENST00000682217.1:c.918T>C	ENSP00000507570.1:p.Asp306=
ENST00000682375.1:c.*946T>C	ENSP00000507551.1:n.*946T>C
ENST00000683052.1:c.918T>C	ENSP00000507072.1:p.Asp306=
ENST00000683216.1:n.4753T>C
ENST00000683460.1:c.*2553T>C	ENSP00000507820.1:n.*2553T>C
ENST00000683688.1:n.2862T>C
ENST00000684621.1:n.974T>C
ENST00000265038.10:c.1173T>C	ENSP00000265038.6:p.Asp391=
ENST00000643034.1:c.*1008T>C	ENSP00000496080.1:n.*1008T>C
ENST00000643708.1:c.*946T>C	ENSP00000494199.1:n.*946T>C
ENST00000647431.1:c.1168T>C
ENST00000675378.1:c.*117T>C	ENSP00000502535.1:n.*117T>C
ENST00000675452.1:n.1365T>C
ENST00000676185.1:c.1116T>C MANE Select	ENSP00000501614.1:p.Asp372=
ENST00000265038.9:c.1116T>C	ENSP00000265038.5:p.Asp372=
ENST00000381118.7:c.*1160T>C	ENSP00000370510.3:n.*1160T>C
ENST00000462279.5:n.2568T>C
NM_000082.3:c.1116T>C , LRG_466t1:c.1116T>C	NP_000073.1:p.Asp372=
NM_001007233.2:c.942T>C	NP_001007234.1:p.Asp314=
NM_001290285.1:c.657T>C	NP_001277214.1:p.Asp219=
NM_000082.4:c.1116T>C MANE Select	NP_000073.1:p.Asp372=
NM_001007233.3:c.942T>C	NP_001007234.1:p.Asp314=
NM_001290285.2:c.657T>C	NP_001277214.1:p.Asp219=