Canonical Allele Identifier: CA359827147

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60904805-G-C
• MyVariant Identifiers: chr5:g.60200632G>C (hg19) ; chr5:g.60904805G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904805G>C , CM000667.2:g.60904805G>C	GRCh38
NC_000005.9:g.60200632G>C , CM000667.1:g.60200632G>C	GRCh37
NC_000005.8:g.60236389G>C	NCBI36
NG_009289.1:g.45274C>G , LRG_466:g.45274C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.468C>G	ENSP00000408344.2:p.His156Gln
ENST00000647431.2:c.569C>G	ENSP00000494726.2:n.569C>G
ENST00000647486.2:c.468C>G	ENSP00000494466.2:p.His156Gln
ENST00000675042.2:c.294C>G	ENSP00000502082.2:p.His98Gln
ENST00000675452.2:c.*433C>G	ENSP00000506954.1:n.*433C>G
ENST00000682217.1:c.468C>G	ENSP00000507570.1:p.His156Gln
ENST00000682246.1:n.524C>G
ENST00000682375.1:c.*298C>G	ENSP00000507551.1:n.*298C>G
ENST00000683052.1:c.270C>G	ENSP00000507072.1:p.His90Gln
ENST00000683199.1:n.490C>G
ENST00000683216.1:n.733C>G
ENST00000683460.1:c.*298C>G	ENSP00000507820.1:n.*298C>G
ENST00000684394.1:n.523C>G
ENST00000684453.1:n.518C>G
ENST00000684621.1:n.524C>G
ENST00000265038.10:c.468C>G	ENSP00000265038.6:p.His156Gln
ENST00000497892.6:c.*266C>G	ENSP00000501805.1:n.*266C>G
ENST00000643034.1:c.*360C>G	ENSP00000496080.1:n.*360C>G
ENST00000643708.1:c.*298C>G	ENSP00000494199.1:n.*298C>G
ENST00000647431.1:c.520C>G
ENST00000647486.1:c.419C>G
ENST00000675042.1:c.294C>G	ENSP00000502082.1:p.His98Gln
ENST00000675229.1:c.468C>G	ENSP00000502154.1:p.His156Gln
ENST00000675378.1:c.468C>G	ENSP00000502535.1:p.His156Gln
ENST00000675452.1:n.717C>G
ENST00000675920.1:n.1076C>G
ENST00000676185.1:c.468C>G MANE Select	ENSP00000501614.1:p.His156Gln
ENST00000265038.9:c.468C>G	ENSP00000265038.5:p.His156Gln
ENST00000381118.7:c.*512C>G	ENSP00000370510.3:n.*512C>G
ENST00000439176.5:c.294C>G	ENSP00000408344.1:p.His98Gln
ENST00000462279.5:n.313C>G
ENST00000484330.5:n.227-2297C>G
ENST00000495985.5:n.241C>G
ENST00000497892.5:n.511C>G
NM_000082.3:c.468C>G , LRG_466t1:c.468C>G	NP_000073.1:p.His156Gln
NM_001007233.2:c.294C>G	NP_001007234.1:p.His98Gln
NM_001007234.2:c.468C>G	NP_001007235.1:p.His156Gln
NM_001290285.1:c.23-1089C>G	NP_001277214.1:n.23-1089C>G
NM_001007234.3:c.468C>G	NP_001007235.1:p.His156Gln
NM_000082.4:c.468C>G MANE Select	NP_000073.1:p.His156Gln
NM_001007233.3:c.294C>G	NP_001007234.1:p.His98Gln
NM_001290285.2:c.23-1089C>G	NP_001277214.1:n.23-1089C>G