Canonical Allele Identifier: CA394811382

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029309A>G (hg19) ; chr16:g.13935452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935452A>G , CM000678.2:g.13935452A>G	GRCh38
NC_000016.9:g.14029309A>G , CM000678.1:g.14029309A>G	GRCh37
NC_000016.8:g.13936810A>G	NCBI36
NG_011442.1:g.20296A>G , LRG_463:g.20296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1598A>G
ENST00000682617.1:c.1658A>G	ENSP00000507912.1:p.Glu553Gly
ENST00000682826.1:c.*834A>G	ENSP00000507274.1:n.*834A>G
ENST00000682909.1:n.3560A>G
ENST00000683277.1:n.3165A>G
ENST00000683407.1:n.1528A>G
ENST00000683962.1:c.*1214A>G	ENSP00000506854.1:n.*1214A>G
ENST00000311895.8:c.1520A>G MANE Select	ENSP00000310520.7:p.Glu507Gly
ENST00000311895.7:c.1520A>G	ENSP00000310520.7:p.Glu507Gly
ENST00000389138.7:n.797A>G
NM_005236.2:c.1520A>G , LRG_463t1:c.1520A>G	NP_005227.1:p.Glu507Gly
XM_011522424.1:c.1658A>G	XP_011520726.1:p.Glu553Gly
XM_011522425.1:c.977A>G	XP_011520727.1:p.Glu326Gly
XM_011522426.1:c.731A>G	XP_011520728.1:p.Glu244Gly
XM_011522427.1:c.170A>G	XP_011520729.1:p.Glu57Gly
XR_932805.1:n.1679A>G
XM_011522424.3:c.1658A>G	XP_011520726.1:p.Glu553Gly
XM_017023043.2:c.731A>G	XP_016878532.1:p.Glu244Gly
NM_005236.3:c.1520A>G MANE Select	NP_005227.1:p.Glu507Gly