Canonical Allele Identifier: CA394812496

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029504A>T (hg19) ; chr16:g.13935647A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935647A>T , CM000678.2:g.13935647A>T	GRCh38
NC_000016.9:g.14029504A>T , CM000678.1:g.14029504A>T	GRCh37
NC_000016.8:g.13937005A>T	NCBI36
NG_011442.1:g.20491A>T , LRG_463:g.20491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1793A>T
ENST00000682617.1:c.1853A>T	ENSP00000507912.1:p.Glu618Val
ENST00000682826.1:c.*1029A>T	ENSP00000507274.1:n.*1029A>T
ENST00000682909.1:n.3755A>T
ENST00000683277.1:n.3360A>T
ENST00000683407.1:n.1723A>T
ENST00000683962.1:c.*1409A>T	ENSP00000506854.1:n.*1409A>T
ENST00000311895.8:c.1715A>T MANE Select	ENSP00000310520.7:p.Glu572Val
ENST00000311895.7:c.1715A>T	ENSP00000310520.7:p.Glu572Val
ENST00000389138.7:n.992A>T
NM_005236.2:c.1715A>T , LRG_463t1:c.1715A>T	NP_005227.1:p.Glu572Val
XM_011522424.1:c.1853A>T	XP_011520726.1:p.Glu618Val
XM_011522425.1:c.1172A>T	XP_011520727.1:p.Glu391Val
XM_011522426.1:c.926A>T	XP_011520728.1:p.Glu309Val
XM_011522427.1:c.365A>T	XP_011520729.1:p.Glu122Val
XR_932805.1:n.1874A>T
XM_011522424.3:c.1853A>T	XP_011520726.1:p.Glu618Val
XM_017023043.2:c.926A>T	XP_016878532.1:p.Glu309Val
NM_005236.3:c.1715A>T MANE Select	NP_005227.1:p.Glu572Val