Canonical Allele Identifier: CA394812399

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029474A>G (hg19) ; chr16:g.13935617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935617A>G , CM000678.2:g.13935617A>G	GRCh38
NC_000016.9:g.14029474A>G , CM000678.1:g.14029474A>G	GRCh37
NC_000016.8:g.13936975A>G	NCBI36
NG_011442.1:g.20461A>G , LRG_463:g.20461A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1763A>G
ENST00000682617.1:c.1823A>G	ENSP00000507912.1:p.Asp608Gly
ENST00000682826.1:c.*999A>G	ENSP00000507274.1:n.*999A>G
ENST00000682909.1:n.3725A>G
ENST00000683277.1:n.3330A>G
ENST00000683407.1:n.1693A>G
ENST00000683962.1:c.*1379A>G	ENSP00000506854.1:n.*1379A>G
ENST00000311895.8:c.1685A>G MANE Select	ENSP00000310520.7:p.Asp562Gly
ENST00000311895.7:c.1685A>G	ENSP00000310520.7:p.Asp562Gly
ENST00000389138.7:n.962A>G
NM_005236.2:c.1685A>G , LRG_463t1:c.1685A>G	NP_005227.1:p.Asp562Gly
XM_011522424.1:c.1823A>G	XP_011520726.1:p.Asp608Gly
XM_011522425.1:c.1142A>G	XP_011520727.1:p.Asp381Gly
XM_011522426.1:c.896A>G	XP_011520728.1:p.Asp299Gly
XM_011522427.1:c.335A>G	XP_011520729.1:p.Asp112Gly
XR_932805.1:n.1844A>G
XM_011522424.3:c.1823A>G	XP_011520726.1:p.Asp608Gly
XM_017023043.2:c.896A>G	XP_016878532.1:p.Asp299Gly
NM_005236.3:c.1685A>G MANE Select	NP_005227.1:p.Asp562Gly