Canonical Allele Identifier: CA2631831202

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944892-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944892C>A , CM000678.2:g.13944892C>A	GRCh38
NC_000016.9:g.14038749C>A , CM000678.1:g.14038749C>A	GRCh37
NC_000016.8:g.13946250C>A	NCBI36
NG_011442.1:g.29736C>A , LRG_463:g.29736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+57C>A	ENSP00000507912.1:n.2155+57C>A
ENST00000683962.1:c.*1711+57C>A	ENSP00000506854.1:n.*1711+57C>A
ENST00000311895.8:c.2017+57C>A MANE Select	ENSP00000310520.7:n.2017+57C>A
ENST00000311895.7:c.2017+57C>A	ENSP00000310520.7:n.2017+57C>A
ENST00000389138.7:n.1294+57C>A
ENST00000462862.1:c.330+57C>A	ENSP00000461322.1:n.330+57C>A
NM_005236.2:c.2017+57C>A , LRG_463t1:c.2017+57C>A	NP_005227.1:n.2017+57C>A
XM_011522424.1:c.2155+57C>A	XP_011520726.1:n.2155+57C>A
XM_011522425.1:c.1474+57C>A	XP_011520727.1:n.1474+57C>A
XM_011522426.1:c.1228+57C>A	XP_011520728.1:n.1228+57C>A
XM_011522427.1:c.667+57C>A	XP_011520729.1:n.667+57C>A
XR_932805.1:n.2176+57C>A
XM_011522424.3:c.2155+57C>A	XP_011520726.1:n.2155+57C>A
XM_017023043.2:c.1228+57C>A	XP_016878532.1:n.1228+57C>A
NM_005236.3:c.2017+57C>A MANE Select	NP_005227.1:n.2017+57C>A