Canonical Allele Identifier: CA493689832

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029343A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935486A>T , CM000678.2:g.13935486A>T	GRCh38
NC_000016.9:g.14029343A>T , CM000678.1:g.14029343A>T	GRCh37
NC_000016.8:g.13936844A>T	NCBI36
NG_011442.1:g.20330A>T , LRG_463:g.20330A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1632A>T
ENST00000682617.1:c.1692A>T	ENSP00000507912.1:p.Ile564=
ENST00000682826.1:c.*868A>T	ENSP00000507274.1:n.*868A>T
ENST00000682909.1:n.3594A>T
ENST00000683277.1:n.3199A>T
ENST00000683407.1:n.1562A>T
ENST00000683962.1:c.*1248A>T	ENSP00000506854.1:n.*1248A>T
ENST00000311895.8:c.1554A>T MANE Select	ENSP00000310520.7:p.Ile518=
ENST00000311895.7:c.1554A>T	ENSP00000310520.7:p.Ile518=
ENST00000389138.7:n.831A>T
NM_005236.2:c.1554A>T , LRG_463t1:c.1554A>T	NP_005227.1:p.Ile518=
XM_011522424.1:c.1692A>T	XP_011520726.1:p.Ile564=
XM_011522425.1:c.1011A>T	XP_011520727.1:p.Ile337=
XM_011522426.1:c.765A>T	XP_011520728.1:p.Ile255=
XM_011522427.1:c.204A>T	XP_011520729.1:p.Ile68=
XR_932805.1:n.1713A>T
XM_011522424.3:c.1692A>T	XP_011520726.1:p.Ile564=
XM_017023043.2:c.765A>T	XP_016878532.1:p.Ile255=
NM_005236.3:c.1554A>T MANE Select	NP_005227.1:p.Ile518=