Canonical Allele Identifier: CA394810718

Gene: ERCC4

Linked Data

• COSMIC: COSM398025
• MyVariant Identifiers: chr16:g.14029230A>G (hg19) ; chr16:g.13935373A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935373A>G , CM000678.2:g.13935373A>G	GRCh38
NC_000016.9:g.14029230A>G , CM000678.1:g.14029230A>G	GRCh37
NC_000016.8:g.13936731A>G	NCBI36
NG_011442.1:g.20217A>G , LRG_463:g.20217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1519A>G
ENST00000682617.1:c.1579A>G	ENSP00000507912.1:p.Lys527Glu
ENST00000682826.1:c.*755A>G	ENSP00000507274.1:n.*755A>G
ENST00000682909.1:n.3481A>G
ENST00000683277.1:n.3086A>G
ENST00000683407.1:n.1449A>G
ENST00000683962.1:c.*1135A>G	ENSP00000506854.1:n.*1135A>G
ENST00000311895.8:c.1441A>G MANE Select	ENSP00000310520.7:p.Lys481Glu
ENST00000311895.7:c.1441A>G	ENSP00000310520.7:p.Lys481Glu
ENST00000389138.7:n.718A>G
ENST00000573018.1:n.509A>G
NM_005236.2:c.1441A>G , LRG_463t1:c.1441A>G	NP_005227.1:p.Lys481Glu
XM_011522424.1:c.1579A>G	XP_011520726.1:p.Lys527Glu
XM_011522425.1:c.898A>G	XP_011520727.1:p.Lys300Glu
XM_011522426.1:c.652A>G	XP_011520728.1:p.Lys218Glu
XM_011522427.1:c.91A>G	XP_011520729.1:p.Lys31Glu
XR_932805.1:n.1600A>G
XM_011522424.3:c.1579A>G	XP_011520726.1:p.Lys527Glu
XM_017023043.2:c.652A>G	XP_016878532.1:p.Lys218Glu
NM_005236.3:c.1441A>G MANE Select	NP_005227.1:p.Lys481Glu