Canonical Allele Identifier: CA2673966321

Gene: ERCC8 ERCC8-AS1

Linked Data

• ClinVar Variation Id: 2970586
• ClinVar RCV Id: RCV003824288
• gnomAD v4: 5-60918249-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60918249G>A , CM000667.2:g.60918249G>A	GRCh38
NC_000005.9:g.60214076G>A , CM000667.1:g.60214076G>A	GRCh37
NC_000005.8:g.60249833G>A	NCBI36
NG_009289.1:g.31830C>T , LRG_466:g.31830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.399+16C>T (ERCC8)	ENSP00000408344.2:n.399+16C>T
ENST00000647431.2:c.399+16C>T (ERCC8)	ENSP00000494726.2:n.399+16C>T
ENST00000647486.2:c.399+16C>T (ERCC8)	ENSP00000494466.2:n.399+16C>T
ENST00000675042.2:c.225+16C>T (ERCC8)	ENSP00000502082.2:n.225+16C>T
ENST00000675452.2:c.*364+16C>T (ERCC8)	ENSP00000506954.1:n.*364+16C>T
ENST00000682217.1:c.399+16C>T (ERCC8)	ENSP00000507570.1:n.399+16C>T
ENST00000682246.1:n.455+16C>T (ERCC8)
ENST00000682375.1:c.225+16C>T (ERCC8)	ENSP00000507551.1:n.225+16C>T
ENST00000682380.1:n.548C>T (ERCC8)
ENST00000682418.1:n.455+16C>T (ERCC8)
ENST00000682750.1:n.359C>T (ERCC8)
ENST00000683052.1:c.201+16C>T (ERCC8)	ENSP00000507072.1:n.201+16C>T
ENST00000683199.1:n.421+16C>T (ERCC8)
ENST00000683460.1:c.399+16C>T (ERCC8)	ENSP00000507820.1:n.399+16C>T
ENST00000684394.1:n.454+16C>T (ERCC8)
ENST00000684453.1:n.449+16C>T (ERCC8)
ENST00000684621.1:n.455+16C>T (ERCC8)
ENST00000265038.10:c.399+16C>T (ERCC8)	ENSP00000265038.6:n.399+16C>T
ENST00000497892.6:c.*197+16C>T (ERCC8)	ENSP00000501805.1:n.*197+16C>T
ENST00000643034.1:c.*291+16C>T (ERCC8)	ENSP00000496080.1:n.*291+16C>T
ENST00000643708.1:c.399+16C>T (ERCC8)	ENSP00000494199.1:n.399+16C>T
ENST00000647431.1:c.350+16C>T (ERCC8)
ENST00000647486.1:c.350+16C>T (ERCC8)
ENST00000675042.1:c.225+16C>T (ERCC8)	ENSP00000502082.1:n.225+16C>T
ENST00000675229.1:c.399+16C>T (ERCC8)	ENSP00000502154.1:n.399+16C>T
ENST00000675378.1:c.399+16C>T (ERCC8)	ENSP00000502535.1:n.399+16C>T
ENST00000675452.1:n.338+16C>T (ERCC8)
ENST00000675920.1:n.1007+16C>T (ERCC8)
ENST00000676185.1:c.399+16C>T (ERCC8) MANE Select	ENSP00000501614.1:n.399+16C>T
ENST00000265038.9:c.399+16C>T (ERCC8)	ENSP00000265038.5:n.399+16C>T
ENST00000381118.7:c.*443+16C>T (ERCC8)	ENSP00000370510.3:n.*443+16C>T
ENST00000439176.5:c.225+16C>T (ERCC8)	ENSP00000408344.1:n.225+16C>T
ENST00000477893.1:n.466C>T (ERCC8)
ENST00000484330.5:n.226+16C>T (ERCC8)
ENST00000495985.5:n.172+16C>T (ERCC8)
ENST00000497892.5:n.442+16C>T (ERCC8)
NM_000082.3:c.399+16C>T , LRG_466t1:c.399+16C>T (ERCC8)	NP_000073.1:n.399+16C>T
NM_001007233.2:c.225+16C>T (ERCC8)	NP_001007234.1:n.225+16C>T
NM_001007234.2:c.399+16C>T (ERCC8)	NP_001007235.1:n.399+16C>T
NM_001290285.1:c.22+16C>T (ERCC8)	NP_001277214.1:n.22+16C>T
XR_948361.1:n.2476-46G>A (ERCC8-AS1)
XR_948362.1:n.2662-46G>A (ERCC8-AS1)
NM_001007234.3:c.399+16C>T (ERCC8)	NP_001007235.1:n.399+16C>T
NM_000082.4:c.399+16C>T (ERCC8) MANE Select	NP_000073.1:n.399+16C>T
NM_001007233.3:c.225+16C>T (ERCC8)	NP_001007234.1:n.225+16C>T
NM_001290285.2:c.22+16C>T (ERCC8)	NP_001277214.1:n.22+16C>T