Canonical Allele Identifier: CA394817497

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038606A>T (hg19) ; chr16:g.13944749A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944749A>T , CM000678.2:g.13944749A>T	GRCh38
NC_000016.9:g.14038606A>T , CM000678.1:g.14038606A>T	GRCh37
NC_000016.8:g.13946107A>T	NCBI36
NG_011442.1:g.29593A>T , LRG_463:g.29593A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2069A>T	ENSP00000507912.1:p.Glu690Val
ENST00000683962.1:c.*1625A>T	ENSP00000506854.1:n.*1625A>T
ENST00000311895.8:c.1931A>T MANE Select	ENSP00000310520.7:p.Glu644Val
ENST00000311895.7:c.1931A>T	ENSP00000310520.7:p.Glu644Val
ENST00000389138.7:n.1208A>T
ENST00000462862.1:c.244A>T	ENSP00000461322.1:n.244A>T
NM_005236.2:c.1931A>T , LRG_463t1:c.1931A>T	NP_005227.1:p.Glu644Val
XM_011522424.1:c.2069A>T	XP_011520726.1:p.Glu690Val
XM_011522425.1:c.1388A>T	XP_011520727.1:p.Glu463Val
XM_011522426.1:c.1142A>T	XP_011520728.1:p.Glu381Val
XM_011522427.1:c.581A>T	XP_011520729.1:p.Glu194Val
XR_932805.1:n.2090A>T
XM_011522424.3:c.2069A>T	XP_011520726.1:p.Glu690Val
XM_017023043.2:c.1142A>T	XP_016878532.1:p.Glu381Val
NM_005236.3:c.1931A>T MANE Select	NP_005227.1:p.Glu644Val