Canonical Allele Identifier: CA493689545

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029514A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935657A>T , CM000678.2:g.13935657A>T	GRCh38
NC_000016.9:g.14029514A>T , CM000678.1:g.14029514A>T	GRCh37
NC_000016.8:g.13937015A>T	NCBI36
NG_011442.1:g.20501A>T , LRG_463:g.20501A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1803A>T
ENST00000682617.1:c.1863A>T	ENSP00000507912.1:p.Pro621=
ENST00000682826.1:c.*1039A>T	ENSP00000507274.1:n.*1039A>T
ENST00000682909.1:n.3765A>T
ENST00000683277.1:n.3370A>T
ENST00000683407.1:n.1733A>T
ENST00000683962.1:c.*1419A>T	ENSP00000506854.1:n.*1419A>T
ENST00000311895.8:c.1725A>T MANE Select	ENSP00000310520.7:p.Pro575=
ENST00000311895.7:c.1725A>T	ENSP00000310520.7:p.Pro575=
ENST00000389138.7:n.1002A>T
NM_005236.2:c.1725A>T , LRG_463t1:c.1725A>T	NP_005227.1:p.Pro575=
XM_011522424.1:c.1863A>T	XP_011520726.1:p.Pro621=
XM_011522425.1:c.1182A>T	XP_011520727.1:p.Pro394=
XM_011522426.1:c.936A>T	XP_011520728.1:p.Pro312=
XM_011522427.1:c.375A>T	XP_011520729.1:p.Pro125=
XR_932805.1:n.1884A>T
XM_011522424.3:c.1863A>T	XP_011520726.1:p.Pro621=
XM_017023043.2:c.936A>T	XP_016878532.1:p.Pro312=
NM_005236.3:c.1725A>T MANE Select	NP_005227.1:p.Pro575=