Canonical Allele Identifier: CA394812506

Gene: ERCC4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1798G>T
ENST00000682617.1:c.1858G>T	ENSP00000507912.1:p.Glu620Ter
ENST00000682826.1:c.*1034G>T	ENSP00000507274.1:n.*1034G>T
ENST00000682909.1:n.3760G>T
ENST00000683277.1:n.3365G>T
ENST00000683407.1:n.1728G>T
ENST00000683962.1:c.*1414G>T	ENSP00000506854.1:n.*1414G>T
ENST00000311895.8:c.1720G>T MANE Select	ENSP00000310520.7:p.Glu574Ter
ENST00000311895.7:c.1720G>T	ENSP00000310520.7:p.Glu574Ter
ENST00000389138.7:n.997G>T
NM_005236.2:c.1720G>T , LRG_463t1:c.1720G>T	NP_005227.1:p.Glu574Ter
XM_011522424.1:c.1858G>T	XP_011520726.1:p.Glu620Ter
XM_011522425.1:c.1177G>T	XP_011520727.1:p.Glu393Ter
XM_011522426.1:c.931G>T	XP_011520728.1:p.Glu311Ter
XM_011522427.1:c.370G>T	XP_011520729.1:p.Glu124Ter
XR_932805.1:n.1879G>T
XM_011522424.3:c.1858G>T	XP_011520726.1:p.Glu620Ter
XM_017023043.2:c.931G>T	XP_016878532.1:p.Glu311Ter
NM_005236.3:c.1720G>T MANE Select	NP_005227.1:p.Glu574Ter