Canonical Allele Identifier: CA493689765

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029325A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935468A>G , CM000678.2:g.13935468A>G	GRCh38
NC_000016.9:g.14029325A>G , CM000678.1:g.14029325A>G	GRCh37
NC_000016.8:g.13936826A>G	NCBI36
NG_011442.1:g.20312A>G , LRG_463:g.20312A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1614A>G
ENST00000682617.1:c.1674A>G	ENSP00000507912.1:p.Glu558=
ENST00000682826.1:c.*850A>G	ENSP00000507274.1:n.*850A>G
ENST00000682909.1:n.3576A>G
ENST00000683277.1:n.3181A>G
ENST00000683407.1:n.1544A>G
ENST00000683962.1:c.*1230A>G	ENSP00000506854.1:n.*1230A>G
ENST00000311895.8:c.1536A>G MANE Select	ENSP00000310520.7:p.Glu512=
ENST00000311895.7:c.1536A>G	ENSP00000310520.7:p.Glu512=
ENST00000389138.7:n.813A>G
NM_005236.2:c.1536A>G , LRG_463t1:c.1536A>G	NP_005227.1:p.Glu512=
XM_011522424.1:c.1674A>G	XP_011520726.1:p.Glu558=
XM_011522425.1:c.993A>G	XP_011520727.1:p.Glu331=
XM_011522426.1:c.747A>G	XP_011520728.1:p.Glu249=
XM_011522427.1:c.186A>G	XP_011520729.1:p.Glu62=
XR_932805.1:n.1695A>G
XM_011522424.3:c.1674A>G	XP_011520726.1:p.Glu558=
XM_017023043.2:c.747A>G	XP_016878532.1:p.Glu249=
NM_005236.3:c.1536A>G MANE Select	NP_005227.1:p.Glu512=