Canonical Allele Identifier: CA493689842

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029367G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935510G>T , CM000678.2:g.13935510G>T	GRCh38
NC_000016.9:g.14029367G>T , CM000678.1:g.14029367G>T	GRCh37
NC_000016.8:g.13936868G>T	NCBI36
NG_011442.1:g.20354G>T , LRG_463:g.20354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1656G>T
ENST00000682617.1:c.1716G>T	ENSP00000507912.1:p.Pro572=
ENST00000682826.1:c.*892G>T	ENSP00000507274.1:n.*892G>T
ENST00000682909.1:n.3618G>T
ENST00000683277.1:n.3223G>T
ENST00000683407.1:n.1586G>T
ENST00000683962.1:c.*1272G>T	ENSP00000506854.1:n.*1272G>T
ENST00000311895.8:c.1578G>T MANE Select	ENSP00000310520.7:p.Pro526=
ENST00000311895.7:c.1578G>T	ENSP00000310520.7:p.Pro526=
ENST00000389138.7:n.855G>T
NM_005236.2:c.1578G>T , LRG_463t1:c.1578G>T	NP_005227.1:p.Pro526=
XM_011522424.1:c.1716G>T	XP_011520726.1:p.Pro572=
XM_011522425.1:c.1035G>T	XP_011520727.1:p.Pro345=
XM_011522426.1:c.789G>T	XP_011520728.1:p.Pro263=
XM_011522427.1:c.228G>T	XP_011520729.1:p.Pro76=
XR_932805.1:n.1737G>T
XM_011522424.3:c.1716G>T	XP_011520726.1:p.Pro572=
XM_017023043.2:c.789G>T	XP_016878532.1:p.Pro263=
NM_005236.3:c.1578G>T MANE Select	NP_005227.1:p.Pro526=