Canonical Allele Identifier: CA2598054629

Gene: ERCC8

Linked Data

• dbSNP Id: rs1440833025
• gnomAD v3: 5-60904663-T-A
• gnomAD v4: 5-60904663-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904663T>A , CM000667.2:g.60904663T>A	GRCh38
NC_000005.9:g.60200490T>A , CM000667.1:g.60200490T>A	GRCh37
NC_000005.8:g.60236247T>A	NCBI36
NG_009289.1:g.45416A>T , LRG_466:g.45416A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.481+129A>T	ENSP00000408344.2:n.481+129A>T
ENST00000647431.2:c.582+129A>T	ENSP00000494726.2:n.582+129A>T
ENST00000647486.2:c.481+129A>T	ENSP00000494466.2:n.481+129A>T
ENST00000675042.2:c.307+129A>T	ENSP00000502082.2:n.307+129A>T
ENST00000675452.2:c.*446+129A>T	ENSP00000506954.1:n.*446+129A>T
ENST00000682217.1:c.481+129A>T	ENSP00000507570.1:n.481+129A>T
ENST00000682246.1:n.537+129A>T
ENST00000682375.1:c.*311+129A>T	ENSP00000507551.1:n.*311+129A>T
ENST00000683052.1:c.283+129A>T	ENSP00000507072.1:n.283+129A>T
ENST00000683199.1:n.503+129A>T
ENST00000683216.1:n.750+125A>T
ENST00000683460.1:c.*311+129A>T	ENSP00000507820.1:n.*311+129A>T
ENST00000684394.1:n.536+129A>T
ENST00000684453.1:n.531+129A>T
ENST00000684621.1:n.537+129A>T
ENST00000265038.10:c.481+129A>T	ENSP00000265038.6:n.481+129A>T
ENST00000497892.6:c.*279+129A>T	ENSP00000501805.1:n.*279+129A>T
ENST00000643034.1:c.*373+129A>T	ENSP00000496080.1:n.*373+129A>T
ENST00000643708.1:c.*311+129A>T	ENSP00000494199.1:n.*311+129A>T
ENST00000647431.1:c.533+129A>T
ENST00000647486.1:c.432+129A>T
ENST00000675042.1:c.307+129A>T	ENSP00000502082.1:n.307+129A>T
ENST00000675229.1:c.481+129A>T	ENSP00000502154.1:n.481+129A>T
ENST00000675378.1:c.481+129A>T	ENSP00000502535.1:n.481+129A>T
ENST00000675452.1:n.730+129A>T
ENST00000675920.1:n.1089+129A>T
ENST00000676185.1:c.481+129A>T MANE Select	ENSP00000501614.1:n.481+129A>T
ENST00000265038.9:c.481+129A>T	ENSP00000265038.5:n.481+129A>T
ENST00000381118.7:c.*525+129A>T	ENSP00000370510.3:n.*525+129A>T
ENST00000439176.5:c.307+129A>T	ENSP00000408344.1:n.307+129A>T
ENST00000462279.5:n.326+129A>T
ENST00000484330.5:n.227-2155A>T
ENST00000495985.5:n.258+125A>T
ENST00000497892.5:n.524+129A>T
NM_000082.3:c.481+129A>T , LRG_466t1:c.481+129A>T	NP_000073.1:n.481+129A>T
NM_001007233.2:c.307+129A>T	NP_001007234.1:n.307+129A>T
NM_001007234.2:c.481+129A>T	NP_001007235.1:n.481+129A>T
NM_001290285.1:c.23-947A>T	NP_001277214.1:n.23-947A>T
NM_001007234.3:c.481+129A>T	NP_001007235.1:n.481+129A>T
NM_000082.4:c.481+129A>T MANE Select	NP_000073.1:n.481+129A>T
NM_001007233.3:c.307+129A>T	NP_001007234.1:n.307+129A>T
NM_001290285.2:c.23-947A>T	NP_001277214.1:n.23-947A>T