Canonical Allele Identifier: CA394812635

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029548T>A (hg19) ; chr16:g.13935691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935691T>A , CM000678.2:g.13935691T>A	GRCh38
NC_000016.9:g.14029548T>A , CM000678.1:g.14029548T>A	GRCh37
NC_000016.8:g.13937049T>A	NCBI36
NG_011442.1:g.20535T>A , LRG_463:g.20535T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1837T>A
ENST00000682617.1:c.1897T>A	ENSP00000507912.1:p.Phe633Ile
ENST00000682826.1:c.*1073T>A	ENSP00000507274.1:n.*1073T>A
ENST00000682909.1:n.3799T>A
ENST00000683277.1:n.3404T>A
ENST00000683407.1:n.1767T>A
ENST00000683962.1:c.*1453T>A	ENSP00000506854.1:n.*1453T>A
ENST00000311895.8:c.1759T>A MANE Select	ENSP00000310520.7:p.Phe587Ile
ENST00000311895.7:c.1759T>A	ENSP00000310520.7:p.Phe587Ile
ENST00000389138.7:n.1036T>A
NM_005236.2:c.1759T>A , LRG_463t1:c.1759T>A	NP_005227.1:p.Phe587Ile
XM_011522424.1:c.1897T>A	XP_011520726.1:p.Phe633Ile
XM_011522425.1:c.1216T>A	XP_011520727.1:p.Phe406Ile
XM_011522426.1:c.970T>A	XP_011520728.1:p.Phe324Ile
XM_011522427.1:c.409T>A	XP_011520729.1:p.Phe137Ile
XR_932805.1:n.1918T>A
XM_011522424.3:c.1897T>A	XP_011520726.1:p.Phe633Ile
XM_017023043.2:c.970T>A	XP_016878532.1:p.Phe324Ile
NM_005236.3:c.1759T>A MANE Select	NP_005227.1:p.Phe587Ile