Canonical Allele Identifier: CA394811341

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029303A>T (hg19) ; chr16:g.13935446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935446A>T , CM000678.2:g.13935446A>T	GRCh38
NC_000016.9:g.14029303A>T , CM000678.1:g.14029303A>T	GRCh37
NC_000016.8:g.13936804A>T	NCBI36
NG_011442.1:g.20290A>T , LRG_463:g.20290A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1592A>T
ENST00000682617.1:c.1652A>T	ENSP00000507912.1:p.Glu551Val
ENST00000682826.1:c.*828A>T	ENSP00000507274.1:n.*828A>T
ENST00000682909.1:n.3554A>T
ENST00000683277.1:n.3159A>T
ENST00000683407.1:n.1522A>T
ENST00000683962.1:c.*1208A>T	ENSP00000506854.1:n.*1208A>T
ENST00000311895.8:c.1514A>T MANE Select	ENSP00000310520.7:p.Glu505Val
ENST00000311895.7:c.1514A>T	ENSP00000310520.7:p.Glu505Val
ENST00000389138.7:n.791A>T
NM_005236.2:c.1514A>T , LRG_463t1:c.1514A>T	NP_005227.1:p.Glu505Val
XM_011522424.1:c.1652A>T	XP_011520726.1:p.Glu551Val
XM_011522425.1:c.971A>T	XP_011520727.1:p.Glu324Val
XM_011522426.1:c.725A>T	XP_011520728.1:p.Glu242Val
XM_011522427.1:c.164A>T	XP_011520729.1:p.Glu55Val
XR_932805.1:n.1673A>T
XM_011522424.3:c.1652A>T	XP_011520726.1:p.Glu551Val
XM_017023043.2:c.725A>T	XP_016878532.1:p.Glu242Val
NM_005236.3:c.1514A>T MANE Select	NP_005227.1:p.Glu505Val