Canonical Allele Identifier: CA15375207
Gene: ERCC8 HGNC NCBI

Linked Data

dbSNP Id: rs158572
gnomAD v2: 5-60239443-G-A
gnomAD v3: 5-60943616-G-A
gnomAD v4: 5-60943616-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60943616G>A , CM000667.2:g.60943616G>A GRCh38
NC_000005.9:g.60239443G>A , CM000667.1:g.60239443G>A GRCh37
NC_000005.8:g.60275200G>A NCBI36
NG_008978.1:g.3488G>A
NG_009289.1:g.6463C>T , LRG_466:g.6463C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000439176.6:c.77+1316C>T ENSP00000408344.2:n.77+1316C>T
ENST00000647431.2:c.77+1316C>T ENSP00000494726.2:n.77+1316C>T
ENST00000647486.2:c.77+1316C>T ENSP00000494466.2:n.77+1316C>T
ENST00000675042.2:c.-140+1316C>T ENSP00000502082.2:n.-140+1316C>T
ENST00000675452.2:c.77+1316C>T ENSP00000506954.1:n.77+1316C>T
ENST00000682041.1:n.127+1316C>T
ENST00000682217.1:c.77+1316C>T ENSP00000507570.1:n.77+1316C>T
ENST00000682246.1:n.133+1316C>T
ENST00000682375.1:c.-140+1316C>T ENSP00000507551.1:n.-140+1316C>T
ENST00000682380.1:n.133+1316C>T
ENST00000682418.1:n.133+1316C>T
ENST00000682874.1:n.127+1316C>T
ENST00000683052.1:c.77+1316C>T ENSP00000507072.1:n.77+1316C>T
ENST00000683199.1:n.99+1316C>T
ENST00000683460.1:c.77+1316C>T ENSP00000507820.1:n.77+1316C>T
ENST00000684394.1:n.132+1316C>T
ENST00000684453.1:n.127+1316C>T
ENST00000684621.1:n.133+1316C>T
ENST00000265038.10:c.77+1316C>T ENSP00000265038.6:n.77+1316C>T
ENST00000497892.6:c.77+1316C>T ENSP00000501805.1:n.77+1316C>T
ENST00000643034.1:c.77+1316C>T ENSP00000496080.1:n.77+1316C>T
ENST00000643708.1:c.77+1316C>T ENSP00000494199.1:n.77+1316C>T
ENST00000647431.1:c.28+1316C>T
ENST00000647486.1:c.28+1316C>T
ENST00000675042.1:c.-140+1316C>T ENSP00000502082.1:n.-140+1316C>T
ENST00000675229.1:c.77+1316C>T ENSP00000502154.1:n.77+1316C>T
ENST00000675378.1:c.77+1316C>T ENSP00000502535.1:n.77+1316C>T
ENST00000676185.1:c.77+1316C>T MANE Select ENSP00000501614.1:n.77+1316C>T
ENST00000265038.9:c.77+1316C>T ENSP00000265038.5:n.77+1316C>T
ENST00000381118.7:c.77+1316C>T ENSP00000370510.3:n.77+1316C>T
ENST00000439176.5:c.-140+1316C>T ENSP00000408344.1:n.-140+1316C>T
ENST00000477893.1:n.128+1316C>T
ENST00000497892.5:n.120+1316C>T
NM_000082.3:c.77+1316C>T , LRG_466t1:c.77+1316C>T NP_000073.1:n.77+1316C>T
NM_001007233.2:c.-316+1316C>T NP_001007234.1:n.-316+1316C>T
NM_001007234.2:c.77+1316C>T NP_001007235.1:n.77+1316C>T
NM_001290285.1:c.-301+1316C>T NP_001277214.1:n.-301+1316C>T
NM_001007234.3:c.77+1316C>T NP_001007235.1:n.77+1316C>T
NM_000082.4:c.77+1316C>T MANE Select NP_000073.1:n.77+1316C>T
NM_001007233.3:c.-316+1316C>T NP_001007234.1:n.-316+1316C>T
NM_001290285.2:c.-301+1316C>T NP_001277214.1:n.-301+1316C>T