Canonical Allele Identifier: CA394812462

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029486T>G (hg19) ; chr16:g.13935629T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935629T>G , CM000678.2:g.13935629T>G	GRCh38
NC_000016.9:g.14029486T>G , CM000678.1:g.14029486T>G	GRCh37
NC_000016.8:g.13936987T>G	NCBI36
NG_011442.1:g.20473T>G , LRG_463:g.20473T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1775T>G
ENST00000682617.1:c.1835T>G	ENSP00000507912.1:p.Leu612Arg
ENST00000682826.1:c.*1011T>G	ENSP00000507274.1:n.*1011T>G
ENST00000682909.1:n.3737T>G
ENST00000683277.1:n.3342T>G
ENST00000683407.1:n.1705T>G
ENST00000683962.1:c.*1391T>G	ENSP00000506854.1:n.*1391T>G
ENST00000311895.8:c.1697T>G MANE Select	ENSP00000310520.7:p.Leu566Arg
ENST00000311895.7:c.1697T>G	ENSP00000310520.7:p.Leu566Arg
ENST00000389138.7:n.974T>G
NM_005236.2:c.1697T>G , LRG_463t1:c.1697T>G	NP_005227.1:p.Leu566Arg
XM_011522424.1:c.1835T>G	XP_011520726.1:p.Leu612Arg
XM_011522425.1:c.1154T>G	XP_011520727.1:p.Leu385Arg
XM_011522426.1:c.908T>G	XP_011520728.1:p.Leu303Arg
XM_011522427.1:c.347T>G	XP_011520729.1:p.Leu116Arg
XR_932805.1:n.1856T>G
XM_011522424.3:c.1835T>G	XP_011520726.1:p.Leu612Arg
XM_017023043.2:c.908T>G	XP_016878532.1:p.Leu303Arg
NM_005236.3:c.1697T>G MANE Select	NP_005227.1:p.Leu566Arg