Canonical Allele Identifier: CA2209073323
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935600G= , CM000678.2:g.13935600G= GRCh38
NC_000016.9:g.14029457G= , CM000678.1:g.14029457G= GRCh37
NC_000016.8:g.13936958G= NCBI36
NG_011442.1:g.20444G= , LRG_463:g.20444G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1746G=
ENST00000682617.1:c.1806G= ENSP00000507912.1:p.Pro602=
ENST00000682826.1:c.*982G= ENSP00000507274.1:n.*982G=
ENST00000682909.1:n.3708G=
ENST00000683277.1:n.3313G=
ENST00000683407.1:n.1676G=
ENST00000683962.1:c.*1362G= ENSP00000506854.1:n.*1362G=
ENST00000311895.8:c.1668G= MANE Select ENSP00000310520.7:p.Pro556=
ENST00000311895.7:c.1668G= ENSP00000310520.7:p.Pro556=
ENST00000389138.7:n.945G=
NM_005236.2:c.1668G= , LRG_463t1:c.1668G= NP_005227.1:p.Pro556=
XM_011522424.1:c.1806G= XP_011520726.1:p.Pro602=
XM_011522425.1:c.1125G= XP_011520727.1:p.Pro375=
XM_011522426.1:c.879G= XP_011520728.1:p.Pro293=
XM_011522427.1:c.318G= XP_011520729.1:p.Pro106=
XR_932805.1:n.1827G=
XM_011522424.3:c.1806G= XP_011520726.1:p.Pro602=
XM_017023043.2:c.879G= XP_016878532.1:p.Pro293=
NM_005236.3:c.1668G= MANE Select NP_005227.1:p.Pro556=