Canonical Allele Identifier: CA493689531

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935639-A-G
• MyVariant Identifiers: chr16:g.14029496A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935639A>G , CM000678.2:g.13935639A>G	GRCh38
NC_000016.9:g.14029496A>G , CM000678.1:g.14029496A>G	GRCh37
NC_000016.8:g.13936997A>G	NCBI36
NG_011442.1:g.20483A>G , LRG_463:g.20483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1785A>G
ENST00000682617.1:c.1845A>G	ENSP00000507912.1:p.Val615=
ENST00000682826.1:c.*1021A>G	ENSP00000507274.1:n.*1021A>G
ENST00000682909.1:n.3747A>G
ENST00000683277.1:n.3352A>G
ENST00000683407.1:n.1715A>G
ENST00000683962.1:c.*1401A>G	ENSP00000506854.1:n.*1401A>G
ENST00000311895.8:c.1707A>G MANE Select	ENSP00000310520.7:p.Val569=
ENST00000311895.7:c.1707A>G	ENSP00000310520.7:p.Val569=
ENST00000389138.7:n.984A>G
NM_005236.2:c.1707A>G , LRG_463t1:c.1707A>G	NP_005227.1:p.Val569=
XM_011522424.1:c.1845A>G	XP_011520726.1:p.Val615=
XM_011522425.1:c.1164A>G	XP_011520727.1:p.Val388=
XM_011522426.1:c.918A>G	XP_011520728.1:p.Val306=
XM_011522427.1:c.357A>G	XP_011520729.1:p.Val119=
XR_932805.1:n.1866A>G
XM_011522424.3:c.1845A>G	XP_011520726.1:p.Val615=
XM_017023043.2:c.918A>G	XP_016878532.1:p.Val306=
NM_005236.3:c.1707A>G MANE Select	NP_005227.1:p.Val569=