Canonical Allele Identifier: CA359822473

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60887467-T-A
• MyVariant Identifiers: chr5:g.60183294T>A (hg19) ; chr5:g.60887467T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887467T>A , CM000667.2:g.60887467T>A	GRCh38
NC_000005.9:g.60183294T>A , CM000667.1:g.60183294T>A	GRCh37
NC_000005.8:g.60219051T>A	NCBI36
NG_009289.1:g.62612A>T , LRG_466:g.62612A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10809A>T	ENSP00000408344.2:n.855+10809A>T
ENST00000647431.2:c.1196A>T	ENSP00000494726.2:n.1196A>T
ENST00000675042.2:c.921A>T	ENSP00000502082.2:p.Leu307Phe
ENST00000675452.2:c.*1060A>T	ENSP00000506954.1:n.*1060A>T
ENST00000682217.1:c.897A>T	ENSP00000507570.1:p.Leu299Phe
ENST00000682375.1:c.*925A>T	ENSP00000507551.1:n.*925A>T
ENST00000683052.1:c.897A>T	ENSP00000507072.1:p.Leu299Phe
ENST00000683216.1:n.4732A>T
ENST00000683460.1:c.*2532A>T	ENSP00000507820.1:n.*2532A>T
ENST00000683688.1:n.2841A>T
ENST00000684621.1:n.953A>T
ENST00000265038.10:c.1152A>T	ENSP00000265038.6:p.Leu384Phe
ENST00000643034.1:c.*987A>T	ENSP00000496080.1:n.*987A>T
ENST00000643708.1:c.*925A>T	ENSP00000494199.1:n.*925A>T
ENST00000647431.1:c.1147A>T
ENST00000675378.1:c.*96A>T	ENSP00000502535.1:n.*96A>T
ENST00000675452.1:n.1344A>T
ENST00000676185.1:c.1095A>T MANE Select	ENSP00000501614.1:p.Leu365Phe
ENST00000265038.9:c.1095A>T	ENSP00000265038.5:p.Leu365Phe
ENST00000381118.7:c.*1139A>T	ENSP00000370510.3:n.*1139A>T
ENST00000462279.5:n.2547A>T
NM_000082.3:c.1095A>T , LRG_466t1:c.1095A>T	NP_000073.1:p.Leu365Phe
NM_001007233.2:c.921A>T	NP_001007234.1:p.Leu307Phe
NM_001290285.1:c.636A>T	NP_001277214.1:p.Leu212Phe
NM_000082.4:c.1095A>T MANE Select	NP_000073.1:p.Leu365Phe
NM_001007233.3:c.921A>T	NP_001007234.1:p.Leu307Phe
NM_001290285.2:c.636A>T	NP_001277214.1:p.Leu212Phe