Canonical Allele Identifier: CA394812215

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029443A>T (hg19) ; chr16:g.13935586A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935586A>T , CM000678.2:g.13935586A>T	GRCh38
NC_000016.9:g.14029443A>T , CM000678.1:g.14029443A>T	GRCh37
NC_000016.8:g.13936944A>T	NCBI36
NG_011442.1:g.20430A>T , LRG_463:g.20430A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1732A>T
ENST00000682617.1:c.1792A>T	ENSP00000507912.1:p.Thr598Ser
ENST00000682826.1:c.*968A>T	ENSP00000507274.1:n.*968A>T
ENST00000682909.1:n.3694A>T
ENST00000683277.1:n.3299A>T
ENST00000683407.1:n.1662A>T
ENST00000683962.1:c.*1348A>T	ENSP00000506854.1:n.*1348A>T
ENST00000311895.8:c.1654A>T MANE Select	ENSP00000310520.7:p.Thr552Ser
ENST00000311895.7:c.1654A>T	ENSP00000310520.7:p.Thr552Ser
ENST00000389138.7:n.931A>T
NM_005236.2:c.1654A>T , LRG_463t1:c.1654A>T	NP_005227.1:p.Thr552Ser
XM_011522424.1:c.1792A>T	XP_011520726.1:p.Thr598Ser
XM_011522425.1:c.1111A>T	XP_011520727.1:p.Thr371Ser
XM_011522426.1:c.865A>T	XP_011520728.1:p.Thr289Ser
XM_011522427.1:c.304A>T	XP_011520729.1:p.Thr102Ser
XR_932805.1:n.1813A>T
XM_011522424.3:c.1792A>T	XP_011520726.1:p.Thr598Ser
XM_017023043.2:c.865A>T	XP_016878532.1:p.Thr289Ser
NM_005236.3:c.1654A>T MANE Select	NP_005227.1:p.Thr552Ser