Canonical Allele Identifier: CA493689547

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029523G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935666G>C , CM000678.2:g.13935666G>C	GRCh38
NC_000016.9:g.14029523G>C , CM000678.1:g.14029523G>C	GRCh37
NC_000016.8:g.13937024G>C	NCBI36
NG_011442.1:g.20510G>C , LRG_463:g.20510G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1812G>C
ENST00000682617.1:c.1872G>C	ENSP00000507912.1:p.Val624=
ENST00000682826.1:c.*1048G>C	ENSP00000507274.1:n.*1048G>C
ENST00000682909.1:n.3774G>C
ENST00000683277.1:n.3379G>C
ENST00000683407.1:n.1742G>C
ENST00000683962.1:c.*1428G>C	ENSP00000506854.1:n.*1428G>C
ENST00000311895.8:c.1734G>C MANE Select	ENSP00000310520.7:p.Val578=
ENST00000311895.7:c.1734G>C	ENSP00000310520.7:p.Val578=
ENST00000389138.7:n.1011G>C
NM_005236.2:c.1734G>C , LRG_463t1:c.1734G>C	NP_005227.1:p.Val578=
XM_011522424.1:c.1872G>C	XP_011520726.1:p.Val624=
XM_011522425.1:c.1191G>C	XP_011520727.1:p.Val397=
XM_011522426.1:c.945G>C	XP_011520728.1:p.Val315=
XM_011522427.1:c.384G>C	XP_011520729.1:p.Val128=
XR_932805.1:n.1893G>C
XM_011522424.3:c.1872G>C	XP_011520726.1:p.Val624=
XM_017023043.2:c.945G>C	XP_016878532.1:p.Val315=
NM_005236.3:c.1734G>C MANE Select	NP_005227.1:p.Val578=