Canonical Allele Identifier: CA493689870

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029424A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935567A>C , CM000678.2:g.13935567A>C	GRCh38
NC_000016.9:g.14029424A>C , CM000678.1:g.14029424A>C	GRCh37
NC_000016.8:g.13936925A>C	NCBI36
NG_011442.1:g.20411A>C , LRG_463:g.20411A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1713A>C
ENST00000682617.1:c.1773A>C	ENSP00000507912.1:p.Gly591=
ENST00000682826.1:c.*949A>C	ENSP00000507274.1:n.*949A>C
ENST00000682909.1:n.3675A>C
ENST00000683277.1:n.3280A>C
ENST00000683407.1:n.1643A>C
ENST00000683962.1:c.*1329A>C	ENSP00000506854.1:n.*1329A>C
ENST00000311895.8:c.1635A>C MANE Select	ENSP00000310520.7:p.Gly545=
ENST00000311895.7:c.1635A>C	ENSP00000310520.7:p.Gly545=
ENST00000389138.7:n.912A>C
NM_005236.2:c.1635A>C , LRG_463t1:c.1635A>C	NP_005227.1:p.Gly545=
XM_011522424.1:c.1773A>C	XP_011520726.1:p.Gly591=
XM_011522425.1:c.1092A>C	XP_011520727.1:p.Gly364=
XM_011522426.1:c.846A>C	XP_011520728.1:p.Gly282=
XM_011522427.1:c.285A>C	XP_011520729.1:p.Gly95=
XR_932805.1:n.1794A>C
XM_011522424.3:c.1773A>C	XP_011520726.1:p.Gly591=
XM_017023043.2:c.846A>C	XP_016878532.1:p.Gly282=
NM_005236.3:c.1635A>C MANE Select	NP_005227.1:p.Gly545=