Canonical Allele Identifier: CA247938

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 198989
• ClinVar RCV Id: RCV000180462 ; RCV000332330 ; RCV000584926 ; RCV001374546 ; RCV003917681
• dbSNP Id: rs61754098
• ExAC: 5:60194107 G / T
• gnomAD v2: 5-60194107-G-T
• gnomAD v3: 5-60898280-G-T
• gnomAD v4: 5-60898280-G-T
• MyVariant Identifiers: chr5:g.60194107G>T (hg19) ; chr5:g.60898280G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60898280G>T , CM000667.2:g.60898280G>T	GRCh38
NC_000005.9:g.60194107G>T , CM000667.1:g.60194107G>T	GRCh37
NC_000005.8:g.60229864G>T	NCBI36
NG_009289.1:g.51799C>A , LRG_466:g.51799C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.851C>A	ENSP00000408344.2:p.Thr284Lys
ENST00000647431.2:c.940C>A	ENSP00000494726.2:n.940C>A
ENST00000647486.2:c.1110C>A	ENSP00000494466.2:n.1110C>A
ENST00000675042.2:c.665C>A	ENSP00000502082.2:p.Thr222Lys
ENST00000675452.2:c.*804C>A	ENSP00000506954.1:n.*804C>A
ENST00000682217.1:c.839C>A	ENSP00000507570.1:p.Thr280Lys
ENST00000682246.1:n.895C>A
ENST00000682375.1:c.*669C>A	ENSP00000507551.1:n.*669C>A
ENST00000683052.1:c.641C>A	ENSP00000507072.1:p.Thr214Lys
ENST00000683199.1:n.861C>A
ENST00000683216.1:n.1108C>A
ENST00000683460.1:c.*669C>A	ENSP00000507820.1:n.*669C>A
ENST00000684394.1:n.894C>A
ENST00000684453.1:n.889C>A
ENST00000684621.1:n.895C>A
ENST00000265038.10:c.839C>A	ENSP00000265038.6:p.Thr280Lys
ENST00000643034.1:c.*731C>A	ENSP00000496080.1:n.*731C>A
ENST00000643708.1:c.*669C>A	ENSP00000494199.1:n.*669C>A
ENST00000647431.1:c.891C>A
ENST00000647486.1:c.1061C>A
ENST00000675378.1:c.839C>A	ENSP00000502535.1:p.Thr280Lys
ENST00000675452.1:n.1088C>A
ENST00000676185.1:c.839C>A MANE Select	ENSP00000501614.1:p.Thr280Lys
ENST00000265038.9:c.839C>A	ENSP00000265038.5:p.Thr280Lys
ENST00000381118.7:c.*883C>A	ENSP00000370510.3:n.*883C>A
ENST00000462279.5:n.684C>A
NM_000082.3:c.839C>A , LRG_466t1:c.839C>A	NP_000073.1:p.Thr280Lys
NM_001007233.2:c.665C>A	NP_001007234.1:p.Thr222Lys
NM_001290285.1:c.380C>A	NP_001277214.1:p.Thr127Lys
NM_000082.4:c.839C>A MANE Select	NP_000073.1:p.Thr280Lys
NM_001007233.3:c.665C>A	NP_001007234.1:p.Thr222Lys
NM_001290285.2:c.380C>A	NP_001277214.1:p.Thr127Lys