Canonical Allele Identifier: CA394811331

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029302G>T (hg19) ; chr16:g.13935445G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935445G>T , CM000678.2:g.13935445G>T	GRCh38
NC_000016.9:g.14029302G>T , CM000678.1:g.14029302G>T	GRCh37
NC_000016.8:g.13936803G>T	NCBI36
NG_011442.1:g.20289G>T , LRG_463:g.20289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1591G>T
ENST00000682617.1:c.1651G>T	ENSP00000507912.1:p.Glu551Ter
ENST00000682826.1:c.*827G>T	ENSP00000507274.1:n.*827G>T
ENST00000682909.1:n.3553G>T
ENST00000683277.1:n.3158G>T
ENST00000683407.1:n.1521G>T
ENST00000683962.1:c.*1207G>T	ENSP00000506854.1:n.*1207G>T
ENST00000311895.8:c.1513G>T MANE Select	ENSP00000310520.7:p.Glu505Ter
ENST00000311895.7:c.1513G>T	ENSP00000310520.7:p.Glu505Ter
ENST00000389138.7:n.790G>T
NM_005236.2:c.1513G>T , LRG_463t1:c.1513G>T	NP_005227.1:p.Glu505Ter
XM_011522424.1:c.1651G>T	XP_011520726.1:p.Glu551Ter
XM_011522425.1:c.970G>T	XP_011520727.1:p.Glu324Ter
XM_011522426.1:c.724G>T	XP_011520728.1:p.Glu242Ter
XM_011522427.1:c.163G>T	XP_011520729.1:p.Glu55Ter
XR_932805.1:n.1672G>T
XM_011522424.3:c.1651G>T	XP_011520726.1:p.Glu551Ter
XM_017023043.2:c.724G>T	XP_016878532.1:p.Glu242Ter
NM_005236.3:c.1513G>T MANE Select	NP_005227.1:p.Glu505Ter