Canonical Allele Identifier: CA493689900

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029463G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935606G>C , CM000678.2:g.13935606G>C	GRCh38
NC_000016.9:g.14029463G>C , CM000678.1:g.14029463G>C	GRCh37
NC_000016.8:g.13936964G>C	NCBI36
NG_011442.1:g.20450G>C , LRG_463:g.20450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1752G>C
ENST00000682617.1:c.1812G>C	ENSP00000507912.1:p.Leu604=
ENST00000682826.1:c.*988G>C	ENSP00000507274.1:n.*988G>C
ENST00000682909.1:n.3714G>C
ENST00000683277.1:n.3319G>C
ENST00000683407.1:n.1682G>C
ENST00000683962.1:c.*1368G>C	ENSP00000506854.1:n.*1368G>C
ENST00000311895.8:c.1674G>C MANE Select	ENSP00000310520.7:p.Leu558=
ENST00000311895.7:c.1674G>C	ENSP00000310520.7:p.Leu558=
ENST00000389138.7:n.951G>C
NM_005236.2:c.1674G>C , LRG_463t1:c.1674G>C	NP_005227.1:p.Leu558=
XM_011522424.1:c.1812G>C	XP_011520726.1:p.Leu604=
XM_011522425.1:c.1131G>C	XP_011520727.1:p.Leu377=
XM_011522426.1:c.885G>C	XP_011520728.1:p.Leu295=
XM_011522427.1:c.324G>C	XP_011520729.1:p.Leu108=
XR_932805.1:n.1833G>C
XM_011522424.3:c.1812G>C	XP_011520726.1:p.Leu604=
XM_017023043.2:c.885G>C	XP_016878532.1:p.Leu295=
NM_005236.3:c.1674G>C MANE Select	NP_005227.1:p.Leu558=