Canonical Allele Identifier: CA394824493

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042030T>A (hg19) ; chr16:g.13948173T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948173T>A , CM000678.2:g.13948173T>A	GRCh38
NC_000016.9:g.14042030T>A , CM000678.1:g.14042030T>A	GRCh37
NC_000016.8:g.13949531T>A	NCBI36
NG_011442.1:g.33017T>A , LRG_463:g.33017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2715T>A	ENSP00000507912.1:p.Asn905Lys
ENST00000683962.1:c.*2271T>A	ENSP00000506854.1:n.*2271T>A
ENST00000311895.8:c.2577T>A MANE Select	ENSP00000310520.7:p.Asn859Lys
ENST00000311895.7:c.2577T>A	ENSP00000310520.7:p.Asn859Lys
ENST00000389138.7:n.1854T>A
NM_005236.2:c.2577T>A , LRG_463t1:c.2577T>A	NP_005227.1:p.Asn859Lys
XM_011522424.1:c.2715T>A	XP_011520726.1:p.Asn905Lys
XM_011522425.1:c.2034T>A	XP_011520727.1:p.Asn678Lys
XM_011522426.1:c.1788T>A	XP_011520728.1:p.Asn596Lys
XM_011522427.1:c.1227T>A	XP_011520729.1:p.Asn409Lys
XR_932805.1:n.2736T>A
XM_011522424.3:c.2715T>A	XP_011520726.1:p.Asn905Lys
XM_017023043.2:c.1788T>A	XP_016878532.1:p.Asn596Lys
NM_005236.3:c.2577T>A MANE Select	NP_005227.1:p.Asn859Lys