Canonical Allele Identifier: CA394812466

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607991
• MyVariant Identifiers: chr16:g.14029488A>T (hg19) ; chr16:g.13935631A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935631A>T , CM000678.2:g.13935631A>T	GRCh38
NC_000016.9:g.14029488A>T , CM000678.1:g.14029488A>T	GRCh37
NC_000016.8:g.13936989A>T	NCBI36
NG_011442.1:g.20475A>T , LRG_463:g.20475A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1777A>T
ENST00000682617.1:c.1837A>T	ENSP00000507912.1:p.Thr613Ser
ENST00000682826.1:c.*1013A>T	ENSP00000507274.1:n.*1013A>T
ENST00000682909.1:n.3739A>T
ENST00000683277.1:n.3344A>T
ENST00000683407.1:n.1707A>T
ENST00000683962.1:c.*1393A>T	ENSP00000506854.1:n.*1393A>T
ENST00000311895.8:c.1699A>T MANE Select	ENSP00000310520.7:p.Thr567Ser
ENST00000311895.7:c.1699A>T	ENSP00000310520.7:p.Thr567Ser
ENST00000389138.7:n.976A>T
NM_005236.2:c.1699A>T , LRG_463t1:c.1699A>T	NP_005227.1:p.Thr567Ser
XM_011522424.1:c.1837A>T	XP_011520726.1:p.Thr613Ser
XM_011522425.1:c.1156A>T	XP_011520727.1:p.Thr386Ser
XM_011522426.1:c.910A>T	XP_011520728.1:p.Thr304Ser
XM_011522427.1:c.349A>T	XP_011520729.1:p.Thr117Ser
XR_932805.1:n.1858A>T
XM_011522424.3:c.1837A>T	XP_011520726.1:p.Thr613Ser
XM_017023043.2:c.910A>T	XP_016878532.1:p.Thr304Ser
NM_005236.3:c.1699A>T MANE Select	NP_005227.1:p.Thr567Ser