Canonical Allele Identifier: CA2209073500
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935694G= , CM000678.2:g.13935694G= GRCh38
NC_000016.9:g.14029551G= , CM000678.1:g.14029551G= GRCh37
NC_000016.8:g.13937052G= NCBI36
NG_011442.1:g.20538G= , LRG_463:g.20538G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1840G=
ENST00000682617.1:c.1900G= ENSP00000507912.1:p.Val634=
ENST00000682826.1:c.*1076G= ENSP00000507274.1:n.*1076G=
ENST00000682909.1:n.3802G=
ENST00000683277.1:n.3407G=
ENST00000683407.1:n.1770G=
ENST00000683962.1:c.*1456G= ENSP00000506854.1:n.*1456G=
ENST00000311895.8:c.1762G= MANE Select ENSP00000310520.7:p.Val588=
ENST00000311895.7:c.1762G= ENSP00000310520.7:p.Val588=
ENST00000389138.7:n.1039G=
NM_005236.2:c.1762G= , LRG_463t1:c.1762G= NP_005227.1:p.Val588=
XM_011522424.1:c.1900G= XP_011520726.1:p.Val634=
XM_011522425.1:c.1219G= XP_011520727.1:p.Val407=
XM_011522426.1:c.973G= XP_011520728.1:p.Val325=
XM_011522427.1:c.412G= XP_011520729.1:p.Val138=
XR_932805.1:n.1921G=
XM_011522424.3:c.1900G= XP_011520726.1:p.Val634=
XM_017023043.2:c.973G= XP_016878532.1:p.Val325=
NM_005236.3:c.1762G= MANE Select NP_005227.1:p.Val588=