Canonical Allele Identifier: CA2209081407
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944742G= , CM000678.2:g.13944742G= GRCh38
NC_000016.9:g.14038599G= , CM000678.1:g.14038599G= GRCh37
NC_000016.8:g.13946100G= NCBI36
NG_011442.1:g.29586G= , LRG_463:g.29586G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2062G= ENSP00000507912.1:p.Val688=
ENST00000683962.1:c.*1618G= ENSP00000506854.1:n.*1618G=
ENST00000311895.8:c.1924G= MANE Select ENSP00000310520.7:p.Val642=
ENST00000311895.7:c.1924G= ENSP00000310520.7:p.Val642=
ENST00000389138.7:n.1201G=
ENST00000462862.1:c.237G= ENSP00000461322.1:n.237G=
NM_005236.2:c.1924G= , LRG_463t1:c.1924G= NP_005227.1:p.Val642=
XM_011522424.1:c.2062G= XP_011520726.1:p.Val688=
XM_011522425.1:c.1381G= XP_011520727.1:p.Val461=
XM_011522426.1:c.1135G= XP_011520728.1:p.Val379=
XM_011522427.1:c.574G= XP_011520729.1:p.Val192=
XR_932805.1:n.2083G=
XM_011522424.3:c.2062G= XP_011520726.1:p.Val688=
XM_017023043.2:c.1135G= XP_016878532.1:p.Val379=
NM_005236.3:c.1924G= MANE Select NP_005227.1:p.Val642=