Canonical Allele Identifier: CA394817706
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944772A>G , CM000678.2:g.13944772A>G GRCh38
NC_000016.9:g.14038629A>G , CM000678.1:g.14038629A>G GRCh37
NC_000016.8:g.13946130A>G NCBI36
NG_011442.1:g.29616A>G , LRG_463:g.29616A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2092A>G ENSP00000507912.1:p.Thr698Ala
ENST00000683962.1:c.*1648A>G ENSP00000506854.1:n.*1648A>G
ENST00000311895.8:c.1954A>G MANE Select ENSP00000310520.7:p.Thr652Ala
ENST00000311895.7:c.1954A>G ENSP00000310520.7:p.Thr652Ala
ENST00000389138.7:n.1231A>G
ENST00000462862.1:c.267A>G ENSP00000461322.1:n.267A>G
NM_005236.2:c.1954A>G , LRG_463t1:c.1954A>G NP_005227.1:p.Thr652Ala
XM_011522424.1:c.2092A>G XP_011520726.1:p.Thr698Ala
XM_011522425.1:c.1411A>G XP_011520727.1:p.Thr471Ala
XM_011522426.1:c.1165A>G XP_011520728.1:p.Thr389Ala
XM_011522427.1:c.604A>G XP_011520729.1:p.Thr202Ala
XR_932805.1:n.2113A>G
XM_011522424.3:c.2092A>G XP_011520726.1:p.Thr698Ala
XM_017023043.2:c.1165A>G XP_016878532.1:p.Thr389Ala
NM_005236.3:c.1954A>G MANE Select NP_005227.1:p.Thr652Ala