Canonical Allele Identifier: CA394811448

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029322G>T (hg19) ; chr16:g.13935465G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935465G>T , CM000678.2:g.13935465G>T	GRCh38
NC_000016.9:g.14029322G>T , CM000678.1:g.14029322G>T	GRCh37
NC_000016.8:g.13936823G>T	NCBI36
NG_011442.1:g.20309G>T , LRG_463:g.20309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1611G>T
ENST00000682617.1:c.1671G>T	ENSP00000507912.1:p.Glu557Asp
ENST00000682826.1:c.*847G>T	ENSP00000507274.1:n.*847G>T
ENST00000682909.1:n.3573G>T
ENST00000683277.1:n.3178G>T
ENST00000683407.1:n.1541G>T
ENST00000683962.1:c.*1227G>T	ENSP00000506854.1:n.*1227G>T
ENST00000311895.8:c.1533G>T MANE Select	ENSP00000310520.7:p.Glu511Asp
ENST00000311895.7:c.1533G>T	ENSP00000310520.7:p.Glu511Asp
ENST00000389138.7:n.810G>T
NM_005236.2:c.1533G>T , LRG_463t1:c.1533G>T	NP_005227.1:p.Glu511Asp
XM_011522424.1:c.1671G>T	XP_011520726.1:p.Glu557Asp
XM_011522425.1:c.990G>T	XP_011520727.1:p.Glu330Asp
XM_011522426.1:c.744G>T	XP_011520728.1:p.Glu248Asp
XM_011522427.1:c.183G>T	XP_011520729.1:p.Glu61Asp
XR_932805.1:n.1692G>T
XM_011522424.3:c.1671G>T	XP_011520726.1:p.Glu557Asp
XM_017023043.2:c.744G>T	XP_016878532.1:p.Glu248Asp
NM_005236.3:c.1533G>T MANE Select	NP_005227.1:p.Glu511Asp