Canonical Allele Identifier: CA394811872

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029395G>A (hg19) ; chr16:g.13935538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935538G>A , CM000678.2:g.13935538G>A	GRCh38
NC_000016.9:g.14029395G>A , CM000678.1:g.14029395G>A	GRCh37
NC_000016.8:g.13936896G>A	NCBI36
NG_011442.1:g.20382G>A , LRG_463:g.20382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1684G>A
ENST00000682617.1:c.1744G>A	ENSP00000507912.1:p.Val582Ile
ENST00000682826.1:c.*920G>A	ENSP00000507274.1:n.*920G>A
ENST00000682909.1:n.3646G>A
ENST00000683277.1:n.3251G>A
ENST00000683407.1:n.1614G>A
ENST00000683962.1:c.*1300G>A	ENSP00000506854.1:n.*1300G>A
ENST00000311895.8:c.1606G>A MANE Select	ENSP00000310520.7:p.Val536Ile
ENST00000311895.7:c.1606G>A	ENSP00000310520.7:p.Val536Ile
ENST00000389138.7:n.883G>A
NM_005236.2:c.1606G>A , LRG_463t1:c.1606G>A	NP_005227.1:p.Val536Ile
XM_011522424.1:c.1744G>A	XP_011520726.1:p.Val582Ile
XM_011522425.1:c.1063G>A	XP_011520727.1:p.Val355Ile
XM_011522426.1:c.817G>A	XP_011520728.1:p.Val273Ile
XM_011522427.1:c.256G>A	XP_011520729.1:p.Val86Ile
XR_932805.1:n.1765G>A
XM_011522424.3:c.1744G>A	XP_011520726.1:p.Val582Ile
XM_017023043.2:c.817G>A	XP_016878532.1:p.Val273Ile
NM_005236.3:c.1606G>A MANE Select	NP_005227.1:p.Val536Ile