Canonical Allele Identifier: CA158873
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 134137
dbSNP Id: rs374186605

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948141C>G , CM000678.2:g.13948141C>G GRCh38
NC_000016.9:g.14041998C>G , CM000678.1:g.14041998C>G GRCh37
NC_000016.8:g.13949499C>G NCBI36
NG_011442.1:g.32985C>G , LRG_463:g.32985C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2683C>G ENSP00000507912.1:p.Gln895Glu
ENST00000683962.1:c.*2239C>G ENSP00000506854.1:n.*2239C>G
ENST00000311895.8:c.2545C>G MANE Select ENSP00000310520.7:p.Gln849Glu
ENST00000311895.7:c.2545C>G ENSP00000310520.7:p.Gln849Glu
ENST00000389138.7:n.1822C>G
NM_005236.2:c.2545C>G , LRG_463t1:c.2545C>G NP_005227.1:p.Gln849Glu
XM_011522424.1:c.2683C>G XP_011520726.1:p.Gln895Glu
XM_011522425.1:c.2002C>G XP_011520727.1:p.Gln668Glu
XM_011522426.1:c.1756C>G XP_011520728.1:p.Gln586Glu
XM_011522427.1:c.1195C>G XP_011520729.1:p.Gln399Glu
XR_932805.1:n.2704C>G
XM_011522424.3:c.2683C>G XP_011520726.1:p.Gln895Glu
XM_017023043.2:c.1756C>G XP_016878532.1:p.Gln586Glu
NM_005236.3:c.2545C>G MANE Select NP_005227.1:p.Gln849Glu