Canonical Allele Identifier: CA2209073452
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935669T= , CM000678.2:g.13935669T= GRCh38
NC_000016.9:g.14029526T= , CM000678.1:g.14029526T= GRCh37
NC_000016.8:g.13937027T= NCBI36
NG_011442.1:g.20513T= , LRG_463:g.20513T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1815T=
ENST00000682617.1:c.1875T= ENSP00000507912.1:p.Val625=
ENST00000682826.1:c.*1051T= ENSP00000507274.1:n.*1051T=
ENST00000682909.1:n.3777T=
ENST00000683277.1:n.3382T=
ENST00000683407.1:n.1745T=
ENST00000683962.1:c.*1431T= ENSP00000506854.1:n.*1431T=
ENST00000311895.8:c.1737T= MANE Select ENSP00000310520.7:p.Val579=
ENST00000311895.7:c.1737T= ENSP00000310520.7:p.Val579=
ENST00000389138.7:n.1014T=
NM_005236.2:c.1737T= , LRG_463t1:c.1737T= NP_005227.1:p.Val579=
XM_011522424.1:c.1875T= XP_011520726.1:p.Val625=
XM_011522425.1:c.1194T= XP_011520727.1:p.Val398=
XM_011522426.1:c.948T= XP_011520728.1:p.Val316=
XM_011522427.1:c.387T= XP_011520729.1:p.Val129=
XR_932805.1:n.1896T=
XM_011522424.3:c.1875T= XP_011520726.1:p.Val625=
XM_017023043.2:c.948T= XP_016878532.1:p.Val316=
NM_005236.3:c.1737T= MANE Select NP_005227.1:p.Val579=