Canonical Allele Identifier: CA394810472

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029207A>T (hg19) ; chr16:g.13935350A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935350A>T , CM000678.2:g.13935350A>T	GRCh38
NC_000016.9:g.14029207A>T , CM000678.1:g.14029207A>T	GRCh37
NC_000016.8:g.13936708A>T	NCBI36
NG_011442.1:g.20194A>T , LRG_463:g.20194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1496A>T
ENST00000682617.1:c.1556A>T	ENSP00000507912.1:p.Gln519Leu
ENST00000682826.1:c.*732A>T	ENSP00000507274.1:n.*732A>T
ENST00000682909.1:n.3458A>T
ENST00000683277.1:n.3063A>T
ENST00000683407.1:n.1426A>T
ENST00000683962.1:c.*1112A>T	ENSP00000506854.1:n.*1112A>T
ENST00000311895.8:c.1418A>T MANE Select	ENSP00000310520.7:p.Gln473Leu
ENST00000311895.7:c.1418A>T	ENSP00000310520.7:p.Gln473Leu
ENST00000389138.7:n.695A>T
ENST00000573018.1:n.486A>T
NM_005236.2:c.1418A>T , LRG_463t1:c.1418A>T	NP_005227.1:p.Gln473Leu
XM_011522424.1:c.1556A>T	XP_011520726.1:p.Gln519Leu
XM_011522425.1:c.875A>T	XP_011520727.1:p.Gln292Leu
XM_011522426.1:c.629A>T	XP_011520728.1:p.Gln210Leu
XM_011522427.1:c.68A>T	XP_011520729.1:p.Gln23Leu
XR_932805.1:n.1577A>T
XM_011522424.3:c.1556A>T	XP_011520726.1:p.Gln519Leu
XM_017023043.2:c.629A>T	XP_016878532.1:p.Gln210Leu
NM_005236.3:c.1418A>T MANE Select	NP_005227.1:p.Gln473Leu