Canonical Allele Identifier: CA394812469

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935632-C-T
• MyVariant Identifiers: chr16:g.14029489C>T (hg19) ; chr16:g.13935632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935632C>T , CM000678.2:g.13935632C>T	GRCh38
NC_000016.9:g.14029489C>T , CM000678.1:g.14029489C>T	GRCh37
NC_000016.8:g.13936990C>T	NCBI36
NG_011442.1:g.20476C>T , LRG_463:g.20476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1778C>T
ENST00000682617.1:c.1838C>T	ENSP00000507912.1:p.Thr613Ile
ENST00000682826.1:c.*1014C>T	ENSP00000507274.1:n.*1014C>T
ENST00000682909.1:n.3740C>T
ENST00000683277.1:n.3345C>T
ENST00000683407.1:n.1708C>T
ENST00000683962.1:c.*1394C>T	ENSP00000506854.1:n.*1394C>T
ENST00000311895.8:c.1700C>T MANE Select	ENSP00000310520.7:p.Thr567Ile
ENST00000311895.7:c.1700C>T	ENSP00000310520.7:p.Thr567Ile
ENST00000389138.7:n.977C>T
NM_005236.2:c.1700C>T , LRG_463t1:c.1700C>T	NP_005227.1:p.Thr567Ile
XM_011522424.1:c.1838C>T	XP_011520726.1:p.Thr613Ile
XM_011522425.1:c.1157C>T	XP_011520727.1:p.Thr386Ile
XM_011522426.1:c.911C>T	XP_011520728.1:p.Thr304Ile
XM_011522427.1:c.350C>T	XP_011520729.1:p.Thr117Ile
XR_932805.1:n.1859C>T
XM_011522424.3:c.1838C>T	XP_011520726.1:p.Thr613Ile
XM_017023043.2:c.911C>T	XP_016878532.1:p.Thr304Ile
NM_005236.3:c.1700C>T MANE Select	NP_005227.1:p.Thr567Ile