Canonical Allele Identifier: CA118853531

Gene: ERCC8

Linked Data

• ClinVar Variation Id: 1194437
• ClinVar RCV Id: RCV001557167
• dbSNP Id: rs201681903
• gnomAD v2: 5-60200459-G-A
• gnomAD v3: 5-60904632-G-A
• gnomAD v4: 5-60904632-G-A
• MyVariant Identifiers: chr5:g.60200459G>A (hg19) ; chr5:g.60200459_60200487delinsATGTATATATATATATATATATATATATA (hg19) ; chr5:g.60904632G>A (hg38) ; chr5:g.60904632_60904660delinsATGTATATATATATATATATATATATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904632G>A , CM000667.2:g.60904632G>A	GRCh38
NC_000005.9:g.60200459G>A , CM000667.1:g.60200459G>A	GRCh37
NC_000005.8:g.60236216G>A	NCBI36
NG_009289.1:g.45447C>T , LRG_466:g.45447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+160C>T	ENSP00000408344.2:n.481+160C>T
ENST00000647431.2:c.582+160C>T	ENSP00000494726.2:n.582+160C>T
ENST00000647486.2:c.481+160C>T	ENSP00000494466.2:n.481+160C>T
ENST00000675042.2:c.307+160C>T	ENSP00000502082.2:n.307+160C>T
ENST00000675452.2:c.*446+160C>T	ENSP00000506954.1:n.*446+160C>T
ENST00000682217.1:c.481+160C>T	ENSP00000507570.1:n.481+160C>T
ENST00000682246.1:n.537+160C>T
ENST00000682375.1:c.*311+160C>T	ENSP00000507551.1:n.*311+160C>T
ENST00000683052.1:c.283+160C>T	ENSP00000507072.1:n.283+160C>T
ENST00000683199.1:n.503+160C>T
ENST00000683216.1:n.750+156C>T
ENST00000683460.1:c.*311+160C>T	ENSP00000507820.1:n.*311+160C>T
ENST00000684394.1:n.536+160C>T
ENST00000684453.1:n.531+160C>T
ENST00000684621.1:n.537+160C>T
ENST00000265038.10:c.481+160C>T	ENSP00000265038.6:n.481+160C>T
ENST00000497892.6:c.*279+160C>T	ENSP00000501805.1:n.*279+160C>T
ENST00000643034.1:c.*373+160C>T	ENSP00000496080.1:n.*373+160C>T
ENST00000643708.1:c.*311+160C>T	ENSP00000494199.1:n.*311+160C>T
ENST00000647431.1:c.533+160C>T
ENST00000647486.1:c.432+160C>T
ENST00000675042.1:c.307+160C>T	ENSP00000502082.1:n.307+160C>T
ENST00000675229.1:c.481+160C>T	ENSP00000502154.1:n.481+160C>T
ENST00000675378.1:c.481+160C>T	ENSP00000502535.1:n.481+160C>T
ENST00000675452.1:n.730+160C>T
ENST00000675920.1:n.1089+160C>T
ENST00000676185.1:c.481+160C>T MANE Select	ENSP00000501614.1:n.481+160C>T
ENST00000265038.9:c.481+160C>T	ENSP00000265038.5:n.481+160C>T
ENST00000381118.7:c.*525+160C>T	ENSP00000370510.3:n.*525+160C>T
ENST00000439176.5:c.307+160C>T	ENSP00000408344.1:n.307+160C>T
ENST00000462279.5:n.326+160C>T
ENST00000484330.5:n.227-2124C>T
ENST00000495985.5:n.258+156C>T
ENST00000497892.5:n.524+160C>T
NM_000082.3:c.481+160C>T , LRG_466t1:c.481+160C>T	NP_000073.1:n.481+160C>T
NM_001007233.2:c.307+160C>T	NP_001007234.1:n.307+160C>T
NM_001007234.2:c.481+160C>T	NP_001007235.1:n.481+160C>T
NM_001290285.1:c.23-916C>T	NP_001277214.1:n.23-916C>T
NM_001007234.3:c.481+160C>T	NP_001007235.1:n.481+160C>T
NM_000082.4:c.481+160C>T MANE Select	NP_000073.1:n.481+160C>T
NM_001007233.3:c.307+160C>T	NP_001007234.1:n.307+160C>T
NM_001290285.2:c.23-916C>T	NP_001277214.1:n.23-916C>T