Canonical Allele Identifier: CA493689782

Gene: ERCC4

Linked Data

• COSMIC: COSM4850458
• MyVariant Identifiers: chr16:g.14041676C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947819C>G , CM000678.2:g.13947819C>G	GRCh38
NC_000016.9:g.14041676C>G , CM000678.1:g.14041676C>G	GRCh37
NC_000016.8:g.13949177C>G	NCBI36
NG_011442.1:g.32663C>G , LRG_463:g.32663C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2361C>G	ENSP00000507912.1:p.Leu787=
ENST00000683962.1:c.*1917C>G	ENSP00000506854.1:n.*1917C>G
ENST00000311895.8:c.2223C>G MANE Select	ENSP00000310520.7:p.Leu741=
ENST00000311895.7:c.2223C>G	ENSP00000310520.7:p.Leu741=
ENST00000389138.7:n.1500C>G
ENST00000462862.1:c.536C>G	ENSP00000461322.1:n.536C>G
NM_005236.2:c.2223C>G , LRG_463t1:c.2223C>G	NP_005227.1:p.Leu741=
XM_011522424.1:c.2361C>G	XP_011520726.1:p.Leu787=
XM_011522425.1:c.1680C>G	XP_011520727.1:p.Leu560=
XM_011522426.1:c.1434C>G	XP_011520728.1:p.Leu478=
XM_011522427.1:c.873C>G	XP_011520729.1:p.Leu291=
XR_932805.1:n.2382C>G
XM_011522424.3:c.2361C>G	XP_011520726.1:p.Leu787=
XM_017023043.2:c.1434C>G	XP_016878532.1:p.Leu478=
NM_005236.3:c.2223C>G MANE Select	NP_005227.1:p.Leu741=