Canonical Allele Identifier: CA493689874

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029428C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935571C>T , CM000678.2:g.13935571C>T	GRCh38
NC_000016.9:g.14029428C>T , CM000678.1:g.14029428C>T	GRCh37
NC_000016.8:g.13936929C>T	NCBI36
NG_011442.1:g.20415C>T , LRG_463:g.20415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1717C>T
ENST00000682617.1:c.1777C>T	ENSP00000507912.1:p.Leu593=
ENST00000682826.1:c.*953C>T	ENSP00000507274.1:n.*953C>T
ENST00000682909.1:n.3679C>T
ENST00000683277.1:n.3284C>T
ENST00000683407.1:n.1647C>T
ENST00000683962.1:c.*1333C>T	ENSP00000506854.1:n.*1333C>T
ENST00000311895.8:c.1639C>T MANE Select	ENSP00000310520.7:p.Leu547=
ENST00000311895.7:c.1639C>T	ENSP00000310520.7:p.Leu547=
ENST00000389138.7:n.916C>T
NM_005236.2:c.1639C>T , LRG_463t1:c.1639C>T	NP_005227.1:p.Leu547=
XM_011522424.1:c.1777C>T	XP_011520726.1:p.Leu593=
XM_011522425.1:c.1096C>T	XP_011520727.1:p.Leu366=
XM_011522426.1:c.850C>T	XP_011520728.1:p.Leu284=
XM_011522427.1:c.289C>T	XP_011520729.1:p.Leu97=
XR_932805.1:n.1798C>T
XM_011522424.3:c.1777C>T	XP_011520726.1:p.Leu593=
XM_017023043.2:c.850C>T	XP_016878532.1:p.Leu284=
NM_005236.3:c.1639C>T MANE Select	NP_005227.1:p.Leu547=