Canonical Allele Identifier: CA493689876

Gene: ERCC4

Linked Data

• dbSNP Id: rs1264509848
• gnomAD v3: 16-13935573-G-T
• gnomAD v4: 16-13935573-G-T
• MyVariant Identifiers: chr16:g.14029430G>T (hg19) ; chr16:g.13935573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935573G>T , CM000678.2:g.13935573G>T	GRCh38
NC_000016.9:g.14029430G>T , CM000678.1:g.14029430G>T	GRCh37
NC_000016.8:g.13936931G>T	NCBI36
NG_011442.1:g.20417G>T , LRG_463:g.20417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1719G>T
ENST00000682617.1:c.1779G>T	ENSP00000507912.1:p.Leu593=
ENST00000682826.1:c.*955G>T	ENSP00000507274.1:n.*955G>T
ENST00000682909.1:n.3681G>T
ENST00000683277.1:n.3286G>T
ENST00000683407.1:n.1649G>T
ENST00000683962.1:c.*1335G>T	ENSP00000506854.1:n.*1335G>T
ENST00000311895.8:c.1641G>T MANE Select	ENSP00000310520.7:p.Leu547=
ENST00000311895.7:c.1641G>T	ENSP00000310520.7:p.Leu547=
ENST00000389138.7:n.918G>T
NM_005236.2:c.1641G>T , LRG_463t1:c.1641G>T	NP_005227.1:p.Leu547=
XM_011522424.1:c.1779G>T	XP_011520726.1:p.Leu593=
XM_011522425.1:c.1098G>T	XP_011520727.1:p.Leu366=
XM_011522426.1:c.852G>T	XP_011520728.1:p.Leu284=
XM_011522427.1:c.291G>T	XP_011520729.1:p.Leu97=
XR_932805.1:n.1800G>T
XM_011522424.3:c.1779G>T	XP_011520726.1:p.Leu593=
XM_017023043.2:c.852G>T	XP_016878532.1:p.Leu284=
NM_005236.3:c.1641G>T MANE Select	NP_005227.1:p.Leu547=