Canonical Allele Identifier: CA1076598121

Gene: ERCC8

Linked Data

• dbSNP Id: rs1749793762
• gnomAD v3: 5-60927768-G-A
• gnomAD v4: 5-60927768-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60927768G>A , CM000667.2:g.60927768G>A	GRCh38
NC_000005.9:g.60223595G>A , CM000667.1:g.60223595G>A	GRCh37
NC_000005.8:g.60259352G>A	NCBI36
NG_009289.1:g.22311C>T , LRG_466:g.22311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.173+1096C>T	ENSP00000408344.2:n.173+1096C>T
ENST00000647431.2:c.173+1096C>T	ENSP00000494726.2:n.173+1096C>T
ENST00000647486.2:c.173+1096C>T	ENSP00000494466.2:n.173+1096C>T
ENST00000675042.2:c.-2+1096C>T	ENSP00000502082.2:n.-2+1096C>T
ENST00000675452.2:c.173+1096C>T	ENSP00000506954.1:n.173+1096C>T
ENST00000682041.1:n.1319C>T
ENST00000682217.1:c.173+1096C>T	ENSP00000507570.1:n.173+1096C>T
ENST00000682246.1:n.229+1096C>T
ENST00000682375.1:c.-2+1096C>T	ENSP00000507551.1:n.-2+1096C>T
ENST00000682380.1:n.229+1096C>T
ENST00000682418.1:n.229+1096C>T
ENST00000682874.1:n.343C>T
ENST00000683052.1:c.78-9380C>T	ENSP00000507072.1:n.78-9380C>T
ENST00000683199.1:n.195+1096C>T
ENST00000683460.1:c.173+1096C>T	ENSP00000507820.1:n.173+1096C>T
ENST00000684394.1:n.228+1096C>T
ENST00000684453.1:n.223+1096C>T
ENST00000684621.1:n.229+1096C>T
ENST00000265038.10:c.173+1096C>T	ENSP00000265038.6:n.173+1096C>T
ENST00000497892.6:c.173+1096C>T	ENSP00000501805.1:n.173+1096C>T
ENST00000643034.1:c.173+1096C>T	ENSP00000496080.1:n.173+1096C>T
ENST00000643708.1:c.173+1096C>T	ENSP00000494199.1:n.173+1096C>T
ENST00000647431.1:c.124+1096C>T
ENST00000647486.1:c.124+1096C>T
ENST00000675042.1:c.-2+1096C>T	ENSP00000502082.1:n.-2+1096C>T
ENST00000675229.1:c.173+1096C>T	ENSP00000502154.1:n.173+1096C>T
ENST00000675378.1:c.173+1096C>T	ENSP00000502535.1:n.173+1096C>T
ENST00000675920.1:n.306C>T
ENST00000676185.1:c.173+1096C>T MANE Select	ENSP00000501614.1:n.173+1096C>T
ENST00000265038.9:c.173+1096C>T	ENSP00000265038.5:n.173+1096C>T
ENST00000381118.7:c.173+1096C>T	ENSP00000370510.3:n.173+1096C>T
ENST00000439176.5:c.-2+1096C>T	ENSP00000408344.1:n.-2+1096C>T
ENST00000477893.1:n.224+1096C>T
ENST00000497892.5:n.216+1096C>T
NM_000082.3:c.173+1096C>T , LRG_466t1:c.173+1096C>T	NP_000073.1:n.173+1096C>T
NM_001007233.2:c.-220+1096C>T	NP_001007234.1:n.-220+1096C>T
NM_001007234.2:c.173+1096C>T	NP_001007235.1:n.173+1096C>T
NM_001290285.1:c.-205+1096C>T	NP_001277214.1:n.-205+1096C>T
NM_001007234.3:c.173+1096C>T	NP_001007235.1:n.173+1096C>T
NM_000082.4:c.173+1096C>T MANE Select	NP_000073.1:n.173+1096C>T
NM_001007233.3:c.-220+1096C>T	NP_001007234.1:n.-220+1096C>T
NM_001290285.2:c.-205+1096C>T	NP_001277214.1:n.-205+1096C>T