Canonical Allele Identifier: CA2209073529
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935702G= , CM000678.2:g.13935702G= GRCh38
NC_000016.9:g.14029559G= , CM000678.1:g.14029559G= GRCh37
NC_000016.8:g.13937060G= NCBI36
NG_011442.1:g.20546G= , LRG_463:g.20546G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1848G=
ENST00000682617.1:c.1908G= ENSP00000507912.1:p.Gln636=
ENST00000682826.1:c.*1084G= ENSP00000507274.1:n.*1084G=
ENST00000682909.1:n.3810G=
ENST00000683277.1:n.3415G=
ENST00000683407.1:n.1778G=
ENST00000683962.1:c.*1464G= ENSP00000506854.1:n.*1464G=
ENST00000311895.8:c.1770G= MANE Select ENSP00000310520.7:p.Gln590=
ENST00000311895.7:c.1770G= ENSP00000310520.7:p.Gln590=
ENST00000389138.7:n.1047G=
NM_005236.2:c.1770G= , LRG_463t1:c.1770G= NP_005227.1:p.Gln590=
XM_011522424.1:c.1908G= XP_011520726.1:p.Gln636=
XM_011522425.1:c.1227G= XP_011520727.1:p.Gln409=
XM_011522426.1:c.981G= XP_011520728.1:p.Gln327=
XM_011522427.1:c.420G= XP_011520729.1:p.Gln140=
XR_932805.1:n.1929G=
XM_011522424.3:c.1908G= XP_011520726.1:p.Gln636=
XM_017023043.2:c.981G= XP_016878532.1:p.Gln327=
NM_005236.3:c.1770G= MANE Select NP_005227.1:p.Gln590=