Canonical Allele Identifier: CA493689580

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935715-A-C
• COSMIC: COSM339632
• MyVariant Identifiers: chr16:g.14029572A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935715A>C , CM000678.2:g.13935715A>C	GRCh38
NC_000016.9:g.14029572A>C , CM000678.1:g.14029572A>C	GRCh37
NC_000016.8:g.13937073A>C	NCBI36
NG_011442.1:g.20559A>C , LRG_463:g.20559A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1861A>C
ENST00000682617.1:c.1921A>C	ENSP00000507912.1:p.Arg641=
ENST00000682826.1:c.*1097A>C	ENSP00000507274.1:n.*1097A>C
ENST00000682909.1:n.3823A>C
ENST00000683277.1:n.3428A>C
ENST00000683407.1:n.1791A>C
ENST00000683962.1:c.*1477A>C	ENSP00000506854.1:n.*1477A>C
ENST00000311895.8:c.1783A>C MANE Select	ENSP00000310520.7:p.Arg595=
ENST00000311895.7:c.1783A>C	ENSP00000310520.7:p.Arg595=
ENST00000389138.7:n.1060A>C
NM_005236.2:c.1783A>C , LRG_463t1:c.1783A>C	NP_005227.1:p.Arg595=
XM_011522424.1:c.1921A>C	XP_011520726.1:p.Arg641=
XM_011522425.1:c.1240A>C	XP_011520727.1:p.Arg414=
XM_011522426.1:c.994A>C	XP_011520728.1:p.Arg332=
XM_011522427.1:c.433A>C	XP_011520729.1:p.Arg145=
XR_932805.1:n.1942A>C
XM_011522424.3:c.1921A>C	XP_011520726.1:p.Arg641=
XM_017023043.2:c.994A>C	XP_016878532.1:p.Arg332=
NM_005236.3:c.1783A>C MANE Select	NP_005227.1:p.Arg595=