Canonical Allele Identifier: CA2209073355
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935620C= , CM000678.2:g.13935620C= GRCh38
NC_000016.9:g.14029477C= , CM000678.1:g.14029477C= GRCh37
NC_000016.8:g.13936978C= NCBI36
NG_011442.1:g.20464C= , LRG_463:g.20464C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1766C=
ENST00000682617.1:c.1826C= ENSP00000507912.1:p.Pro609=
ENST00000682826.1:c.*1002C= ENSP00000507274.1:n.*1002C=
ENST00000682909.1:n.3728C=
ENST00000683277.1:n.3333C=
ENST00000683407.1:n.1696C=
ENST00000683962.1:c.*1382C= ENSP00000506854.1:n.*1382C=
ENST00000311895.8:c.1688C= MANE Select ENSP00000310520.7:p.Pro563=
ENST00000311895.7:c.1688C= ENSP00000310520.7:p.Pro563=
ENST00000389138.7:n.965C=
NM_005236.2:c.1688C= , LRG_463t1:c.1688C= NP_005227.1:p.Pro563=
XM_011522424.1:c.1826C= XP_011520726.1:p.Pro609=
XM_011522425.1:c.1145C= XP_011520727.1:p.Pro382=
XM_011522426.1:c.899C= XP_011520728.1:p.Pro300=
XM_011522427.1:c.338C= XP_011520729.1:p.Pro113=
XR_932805.1:n.1847C=
XM_011522424.3:c.1826C= XP_011520726.1:p.Pro609=
XM_017023043.2:c.899C= XP_016878532.1:p.Pro300=
NM_005236.3:c.1688C= MANE Select NP_005227.1:p.Pro563=