Canonical Allele Identifier: CA2209073544
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935725G= , CM000678.2:g.13935725G= GRCh38
NC_000016.9:g.14029582G= , CM000678.1:g.14029582G= GRCh37
NC_000016.8:g.13937083G= NCBI36
NG_011442.1:g.20569G= , LRG_463:g.20569G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1871G=
ENST00000682617.1:c.1931G= ENSP00000507912.1:p.Arg644=
ENST00000682826.1:c.*1107G= ENSP00000507274.1:n.*1107G=
ENST00000682909.1:n.3833G=
ENST00000683277.1:n.3438G=
ENST00000683407.1:n.1801G=
ENST00000683962.1:c.*1487G= ENSP00000506854.1:n.*1487G=
ENST00000311895.8:c.1793G= MANE Select ENSP00000310520.7:p.Arg598=
ENST00000311895.7:c.1793G= ENSP00000310520.7:p.Arg598=
ENST00000389138.7:n.1070G=
NM_005236.2:c.1793G= , LRG_463t1:c.1793G= NP_005227.1:p.Arg598=
XM_011522424.1:c.1931G= XP_011520726.1:p.Arg644=
XM_011522425.1:c.1250G= XP_011520727.1:p.Arg417=
XM_011522426.1:c.1004G= XP_011520728.1:p.Arg335=
XM_011522427.1:c.443G= XP_011520729.1:p.Arg148=
XR_932805.1:n.1952G=
XM_011522424.3:c.1931G= XP_011520726.1:p.Arg644=
XM_017023043.2:c.1004G= XP_016878532.1:p.Arg335=
NM_005236.3:c.1793G= MANE Select NP_005227.1:p.Arg598=