Canonical Allele Identifier: CA493689778

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029334T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935477T>C , CM000678.2:g.13935477T>C	GRCh38
NC_000016.9:g.14029334T>C , CM000678.1:g.14029334T>C	GRCh37
NC_000016.8:g.13936835T>C	NCBI36
NG_011442.1:g.20321T>C , LRG_463:g.20321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1623T>C
ENST00000682617.1:c.1683T>C	ENSP00000507912.1:p.Arg561=
ENST00000682826.1:c.*859T>C	ENSP00000507274.1:n.*859T>C
ENST00000682909.1:n.3585T>C
ENST00000683277.1:n.3190T>C
ENST00000683407.1:n.1553T>C
ENST00000683962.1:c.*1239T>C	ENSP00000506854.1:n.*1239T>C
ENST00000311895.8:c.1545T>C MANE Select	ENSP00000310520.7:p.Arg515=
ENST00000311895.7:c.1545T>C	ENSP00000310520.7:p.Arg515=
ENST00000389138.7:n.822T>C
NM_005236.2:c.1545T>C , LRG_463t1:c.1545T>C	NP_005227.1:p.Arg515=
XM_011522424.1:c.1683T>C	XP_011520726.1:p.Arg561=
XM_011522425.1:c.1002T>C	XP_011520727.1:p.Arg334=
XM_011522426.1:c.756T>C	XP_011520728.1:p.Arg252=
XM_011522427.1:c.195T>C	XP_011520729.1:p.Arg65=
XR_932805.1:n.1704T>C
XM_011522424.3:c.1683T>C	XP_011520726.1:p.Arg561=
XM_017023043.2:c.756T>C	XP_016878532.1:p.Arg252=
NM_005236.3:c.1545T>C MANE Select	NP_005227.1:p.Arg515=