Canonical Allele Identifier: CA493689558

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935685-C-T
• MyVariant Identifiers: chr16:g.14029542C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935685C>T , CM000678.2:g.13935685C>T	GRCh38
NC_000016.9:g.14029542C>T , CM000678.1:g.14029542C>T	GRCh37
NC_000016.8:g.13937043C>T	NCBI36
NG_011442.1:g.20529C>T , LRG_463:g.20529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1831C>T
ENST00000682617.1:c.1891C>T	ENSP00000507912.1:p.Leu631=
ENST00000682826.1:c.*1067C>T	ENSP00000507274.1:n.*1067C>T
ENST00000682909.1:n.3793C>T
ENST00000683277.1:n.3398C>T
ENST00000683407.1:n.1761C>T
ENST00000683962.1:c.*1447C>T	ENSP00000506854.1:n.*1447C>T
ENST00000311895.8:c.1753C>T MANE Select	ENSP00000310520.7:p.Leu585=
ENST00000311895.7:c.1753C>T	ENSP00000310520.7:p.Leu585=
ENST00000389138.7:n.1030C>T
NM_005236.2:c.1753C>T , LRG_463t1:c.1753C>T	NP_005227.1:p.Leu585=
XM_011522424.1:c.1891C>T	XP_011520726.1:p.Leu631=
XM_011522425.1:c.1210C>T	XP_011520727.1:p.Leu404=
XM_011522426.1:c.964C>T	XP_011520728.1:p.Leu322=
XM_011522427.1:c.403C>T	XP_011520729.1:p.Leu135=
XR_932805.1:n.1912C>T
XM_011522424.3:c.1891C>T	XP_011520726.1:p.Leu631=
XM_017023043.2:c.964C>T	XP_016878532.1:p.Leu322=
NM_005236.3:c.1753C>T MANE Select	NP_005227.1:p.Leu585=