Canonical Allele Identifier: CA2209082888
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948152G= , CM000678.2:g.13948152G= GRCh38
NC_000016.9:g.14042009G= , CM000678.1:g.14042009G= GRCh37
NC_000016.8:g.13949510G= NCBI36
NG_011442.1:g.32996G= , LRG_463:g.32996G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2694G= ENSP00000507912.1:p.Leu898=
ENST00000683962.1:c.*2250G= ENSP00000506854.1:n.*2250G=
ENST00000311895.8:c.2556G= MANE Select ENSP00000310520.7:p.Leu852=
ENST00000311895.7:c.2556G= ENSP00000310520.7:p.Leu852=
ENST00000389138.7:n.1833G=
NM_005236.2:c.2556G= , LRG_463t1:c.2556G= NP_005227.1:p.Leu852=
XM_011522424.1:c.2694G= XP_011520726.1:p.Leu898=
XM_011522425.1:c.2013G= XP_011520727.1:p.Leu671=
XM_011522426.1:c.1767G= XP_011520728.1:p.Leu589=
XM_011522427.1:c.1206G= XP_011520729.1:p.Leu402=
XR_932805.1:n.2715G=
XM_011522424.3:c.2694G= XP_011520726.1:p.Leu898=
XM_017023043.2:c.1767G= XP_016878532.1:p.Leu589=
NM_005236.3:c.2556G= MANE Select NP_005227.1:p.Leu852=