Canonical Allele Identifier: CA394812505

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029509G>C (hg19) ; chr16:g.13935652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935652G>C , CM000678.2:g.13935652G>C	GRCh38
NC_000016.9:g.14029509G>C , CM000678.1:g.14029509G>C	GRCh37
NC_000016.8:g.13937010G>C	NCBI36
NG_011442.1:g.20496G>C , LRG_463:g.20496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1798G>C
ENST00000682617.1:c.1858G>C	ENSP00000507912.1:p.Glu620Gln
ENST00000682826.1:c.*1034G>C	ENSP00000507274.1:n.*1034G>C
ENST00000682909.1:n.3760G>C
ENST00000683277.1:n.3365G>C
ENST00000683407.1:n.1728G>C
ENST00000683962.1:c.*1414G>C	ENSP00000506854.1:n.*1414G>C
ENST00000311895.8:c.1720G>C MANE Select	ENSP00000310520.7:p.Glu574Gln
ENST00000311895.7:c.1720G>C	ENSP00000310520.7:p.Glu574Gln
ENST00000389138.7:n.997G>C
NM_005236.2:c.1720G>C , LRG_463t1:c.1720G>C	NP_005227.1:p.Glu574Gln
XM_011522424.1:c.1858G>C	XP_011520726.1:p.Glu620Gln
XM_011522425.1:c.1177G>C	XP_011520727.1:p.Glu393Gln
XM_011522426.1:c.931G>C	XP_011520728.1:p.Glu311Gln
XM_011522427.1:c.370G>C	XP_011520729.1:p.Glu124Gln
XR_932805.1:n.1879G>C
XM_011522424.3:c.1858G>C	XP_011520726.1:p.Glu620Gln
XM_017023043.2:c.931G>C	XP_016878532.1:p.Glu311Gln
NM_005236.3:c.1720G>C MANE Select	NP_005227.1:p.Glu574Gln