Canonical Allele Identifier: CA493689588

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029586T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935729T>G , CM000678.2:g.13935729T>G	GRCh38
NC_000016.9:g.14029586T>G , CM000678.1:g.14029586T>G	GRCh37
NC_000016.8:g.13937087T>G	NCBI36
NG_011442.1:g.20573T>G , LRG_463:g.20573T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1875T>G
ENST00000682617.1:c.1935T>G	ENSP00000507912.1:p.Pro645=
ENST00000682826.1:c.*1111T>G	ENSP00000507274.1:n.*1111T>G
ENST00000682909.1:n.3837T>G
ENST00000683277.1:n.3442T>G
ENST00000683407.1:n.1805T>G
ENST00000683962.1:c.*1491T>G	ENSP00000506854.1:n.*1491T>G
ENST00000311895.8:c.1797T>G MANE Select	ENSP00000310520.7:p.Pro599=
ENST00000311895.7:c.1797T>G	ENSP00000310520.7:p.Pro599=
ENST00000389138.7:n.1074T>G
NM_005236.2:c.1797T>G , LRG_463t1:c.1797T>G	NP_005227.1:p.Pro599=
XM_011522424.1:c.1935T>G	XP_011520726.1:p.Pro645=
XM_011522425.1:c.1254T>G	XP_011520727.1:p.Pro418=
XM_011522426.1:c.1008T>G	XP_011520728.1:p.Pro336=
XM_011522427.1:c.447T>G	XP_011520729.1:p.Pro149=
XR_932805.1:n.1956T>G
XM_011522424.3:c.1935T>G	XP_011520726.1:p.Pro645=
XM_017023043.2:c.1008T>G	XP_016878532.1:p.Pro336=
NM_005236.3:c.1797T>G MANE Select	NP_005227.1:p.Pro599=