Canonical Allele Identifier: CA2209073538
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935713A= , CM000678.2:g.13935713A= GRCh38
NC_000016.9:g.14029570A= , CM000678.1:g.14029570A= GRCh37
NC_000016.8:g.13937071A= NCBI36
NG_011442.1:g.20557A= , LRG_463:g.20557A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1859A=
ENST00000682617.1:c.1919A= ENSP00000507912.1:p.Tyr640=
ENST00000682826.1:c.*1095A= ENSP00000507274.1:n.*1095A=
ENST00000682909.1:n.3821A=
ENST00000683277.1:n.3426A=
ENST00000683407.1:n.1789A=
ENST00000683962.1:c.*1475A= ENSP00000506854.1:n.*1475A=
ENST00000311895.8:c.1781A= MANE Select ENSP00000310520.7:p.Tyr594=
ENST00000311895.7:c.1781A= ENSP00000310520.7:p.Tyr594=
ENST00000389138.7:n.1058A=
NM_005236.2:c.1781A= , LRG_463t1:c.1781A= NP_005227.1:p.Tyr594=
XM_011522424.1:c.1919A= XP_011520726.1:p.Tyr640=
XM_011522425.1:c.1238A= XP_011520727.1:p.Tyr413=
XM_011522426.1:c.992A= XP_011520728.1:p.Tyr331=
XM_011522427.1:c.431A= XP_011520729.1:p.Tyr144=
XR_932805.1:n.1940A=
XM_011522424.3:c.1919A= XP_011520726.1:p.Tyr640=
XM_017023043.2:c.992A= XP_016878532.1:p.Tyr331=
NM_005236.3:c.1781A= MANE Select NP_005227.1:p.Tyr594=