Canonical Allele Identifier: CA493690062
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948023G>T , CM000678.2:g.13948023G>T GRCh38
NC_000016.9:g.14041880G>T , CM000678.1:g.14041880G>T GRCh37
NC_000016.8:g.13949381G>T NCBI36
NG_011442.1:g.32867G>T , LRG_463:g.32867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2565G>T ENSP00000507912.1:p.Thr855=
ENST00000683962.1:c.*2121G>T ENSP00000506854.1:n.*2121G>T
ENST00000311895.8:c.2427G>T MANE Select ENSP00000310520.7:p.Thr809=
ENST00000311895.7:c.2427G>T ENSP00000310520.7:p.Thr809=
ENST00000389138.7:n.1704G>T
NM_005236.2:c.2427G>T , LRG_463t1:c.2427G>T NP_005227.1:p.Thr809=
XM_011522424.1:c.2565G>T XP_011520726.1:p.Thr855=
XM_011522425.1:c.1884G>T XP_011520727.1:p.Thr628=
XM_011522426.1:c.1638G>T XP_011520728.1:p.Thr546=
XM_011522427.1:c.1077G>T XP_011520729.1:p.Thr359=
XR_932805.1:n.2586G>T
XM_011522424.3:c.2565G>T XP_011520726.1:p.Thr855=
XM_017023043.2:c.1638G>T XP_016878532.1:p.Thr546=
NM_005236.3:c.2427G>T MANE Select NP_005227.1:p.Thr809=