Canonical Allele Identifier: CA394811721

Gene: ERCC4

Linked Data

• COSMIC: COSM6143487
• MyVariant Identifiers: chr16:g.14029376T>G (hg19) ; chr16:g.13935519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935519T>G , CM000678.2:g.13935519T>G	GRCh38
NC_000016.9:g.14029376T>G , CM000678.1:g.14029376T>G	GRCh37
NC_000016.8:g.13936877T>G	NCBI36
NG_011442.1:g.20363T>G , LRG_463:g.20363T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1665T>G
ENST00000682617.1:c.1725T>G	ENSP00000507912.1:p.Ile575Met
ENST00000682826.1:c.*901T>G	ENSP00000507274.1:n.*901T>G
ENST00000682909.1:n.3627T>G
ENST00000683277.1:n.3232T>G
ENST00000683407.1:n.1595T>G
ENST00000683962.1:c.*1281T>G	ENSP00000506854.1:n.*1281T>G
ENST00000311895.8:c.1587T>G MANE Select	ENSP00000310520.7:p.Ile529Met
ENST00000311895.7:c.1587T>G	ENSP00000310520.7:p.Ile529Met
ENST00000389138.7:n.864T>G
NM_005236.2:c.1587T>G , LRG_463t1:c.1587T>G	NP_005227.1:p.Ile529Met
XM_011522424.1:c.1725T>G	XP_011520726.1:p.Ile575Met
XM_011522425.1:c.1044T>G	XP_011520727.1:p.Ile348Met
XM_011522426.1:c.798T>G	XP_011520728.1:p.Ile266Met
XM_011522427.1:c.237T>G	XP_011520729.1:p.Ile79Met
XR_932805.1:n.1746T>G
XM_011522424.3:c.1725T>G	XP_011520726.1:p.Ile575Met
XM_017023043.2:c.798T>G	XP_016878532.1:p.Ile266Met
NM_005236.3:c.1587T>G MANE Select	NP_005227.1:p.Ile529Met