Canonical Allele Identifier: CA493689578

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029568T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935711T>C , CM000678.2:g.13935711T>C	GRCh38
NC_000016.9:g.14029568T>C , CM000678.1:g.14029568T>C	GRCh37
NC_000016.8:g.13937069T>C	NCBI36
NG_011442.1:g.20555T>C , LRG_463:g.20555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1857T>C
ENST00000682617.1:c.1917T>C	ENSP00000507912.1:p.Ile639=
ENST00000682826.1:c.*1093T>C	ENSP00000507274.1:n.*1093T>C
ENST00000682909.1:n.3819T>C
ENST00000683277.1:n.3424T>C
ENST00000683407.1:n.1787T>C
ENST00000683962.1:c.*1473T>C	ENSP00000506854.1:n.*1473T>C
ENST00000311895.8:c.1779T>C MANE Select	ENSP00000310520.7:p.Ile593=
ENST00000311895.7:c.1779T>C	ENSP00000310520.7:p.Ile593=
ENST00000389138.7:n.1056T>C
NM_005236.2:c.1779T>C , LRG_463t1:c.1779T>C	NP_005227.1:p.Ile593=
XM_011522424.1:c.1917T>C	XP_011520726.1:p.Ile639=
XM_011522425.1:c.1236T>C	XP_011520727.1:p.Ile412=
XM_011522426.1:c.990T>C	XP_011520728.1:p.Ile330=
XM_011522427.1:c.429T>C	XP_011520729.1:p.Ile143=
XR_932805.1:n.1938T>C
XM_011522424.3:c.1917T>C	XP_011520726.1:p.Ile639=
XM_017023043.2:c.990T>C	XP_016878532.1:p.Ile330=
NM_005236.3:c.1779T>C MANE Select	NP_005227.1:p.Ile593=