Canonical Allele Identifier: CA394812781

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935722-G-A
• MyVariant Identifiers: chr16:g.14029579G>A (hg19) ; chr16:g.13935722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935722G>A , CM000678.2:g.13935722G>A	GRCh38
NC_000016.9:g.14029579G>A , CM000678.1:g.14029579G>A	GRCh37
NC_000016.8:g.13937080G>A	NCBI36
NG_011442.1:g.20566G>A , LRG_463:g.20566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1868G>A
ENST00000682617.1:c.1928G>A	ENSP00000507912.1:p.Ser643Asn
ENST00000682826.1:c.*1104G>A	ENSP00000507274.1:n.*1104G>A
ENST00000682909.1:n.3830G>A
ENST00000683277.1:n.3435G>A
ENST00000683407.1:n.1798G>A
ENST00000683962.1:c.*1484G>A	ENSP00000506854.1:n.*1484G>A
ENST00000311895.8:c.1790G>A MANE Select	ENSP00000310520.7:p.Ser597Asn
ENST00000311895.7:c.1790G>A	ENSP00000310520.7:p.Ser597Asn
ENST00000389138.7:n.1067G>A
NM_005236.2:c.1790G>A , LRG_463t1:c.1790G>A	NP_005227.1:p.Ser597Asn
XM_011522424.1:c.1928G>A	XP_011520726.1:p.Ser643Asn
XM_011522425.1:c.1247G>A	XP_011520727.1:p.Ser416Asn
XM_011522426.1:c.1001G>A	XP_011520728.1:p.Ser334Asn
XM_011522427.1:c.440G>A	XP_011520729.1:p.Ser147Asn
XR_932805.1:n.1949G>A
XM_011522424.3:c.1928G>A	XP_011520726.1:p.Ser643Asn
XM_017023043.2:c.1001G>A	XP_016878532.1:p.Ser334Asn
NM_005236.3:c.1790G>A MANE Select	NP_005227.1:p.Ser597Asn