Canonical Allele Identifier: CA493444410

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944816-C-A
• MyVariant Identifiers: chr16:g.14038673C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944816C>A , CM000678.2:g.13944816C>A	GRCh38
NC_000016.9:g.14038673C>A , CM000678.1:g.14038673C>A	GRCh37
NC_000016.8:g.13946174C>A	NCBI36
NG_011442.1:g.29660C>A , LRG_463:g.29660C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2136C>A	ENSP00000507912.1:p.Ser712=
ENST00000683962.1:c.*1692C>A	ENSP00000506854.1:n.*1692C>A
ENST00000311895.8:c.1998C>A MANE Select	ENSP00000310520.7:p.Ser666=
ENST00000311895.7:c.1998C>A	ENSP00000310520.7:p.Ser666=
ENST00000389138.7:n.1275C>A
ENST00000462862.1:c.311C>A	ENSP00000461322.1:n.311C>A
NM_005236.2:c.1998C>A , LRG_463t1:c.1998C>A	NP_005227.1:p.Ser666=
XM_011522424.1:c.2136C>A	XP_011520726.1:p.Ser712=
XM_011522425.1:c.1455C>A	XP_011520727.1:p.Ser485=
XM_011522426.1:c.1209C>A	XP_011520728.1:p.Ser403=
XM_011522427.1:c.648C>A	XP_011520729.1:p.Ser216=
XR_932805.1:n.2157C>A
XM_011522424.3:c.2136C>A	XP_011520726.1:p.Ser712=
XM_017023043.2:c.1209C>A	XP_016878532.1:p.Ser403=
NM_005236.3:c.1998C>A MANE Select	NP_005227.1:p.Ser666=