Canonical Allele Identifier: CA493689562
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14029547C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935690C>A , CM000678.2:g.13935690C>A GRCh38
NC_000016.9:g.14029547C>A , CM000678.1:g.14029547C>A GRCh37
NC_000016.8:g.13937048C>A NCBI36
NG_011442.1:g.20534C>A , LRG_463:g.20534C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1836C>A
ENST00000682617.1:c.1896C>A ENSP00000507912.1:p.Thr632=
ENST00000682826.1:c.*1072C>A ENSP00000507274.1:n.*1072C>A
ENST00000682909.1:n.3798C>A
ENST00000683277.1:n.3403C>A
ENST00000683407.1:n.1766C>A
ENST00000683962.1:c.*1452C>A ENSP00000506854.1:n.*1452C>A
ENST00000311895.8:c.1758C>A MANE Select ENSP00000310520.7:p.Thr586=
ENST00000311895.7:c.1758C>A ENSP00000310520.7:p.Thr586=
ENST00000389138.7:n.1035C>A
NM_005236.2:c.1758C>A , LRG_463t1:c.1758C>A NP_005227.1:p.Thr586=
XM_011522424.1:c.1896C>A XP_011520726.1:p.Thr632=
XM_011522425.1:c.1215C>A XP_011520727.1:p.Thr405=
XM_011522426.1:c.969C>A XP_011520728.1:p.Thr323=
XM_011522427.1:c.408C>A XP_011520729.1:p.Thr136=
XR_932805.1:n.1917C>A
XM_011522424.3:c.1896C>A XP_011520726.1:p.Thr632=
XM_017023043.2:c.969C>A XP_016878532.1:p.Thr323=
NM_005236.3:c.1758C>A MANE Select NP_005227.1:p.Thr586=