Canonical Allele Identifier: CA394812495

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029504A>G (hg19) ; chr16:g.13935647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935647A>G , CM000678.2:g.13935647A>G	GRCh38
NC_000016.9:g.14029504A>G , CM000678.1:g.14029504A>G	GRCh37
NC_000016.8:g.13937005A>G	NCBI36
NG_011442.1:g.20491A>G , LRG_463:g.20491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1793A>G
ENST00000682617.1:c.1853A>G	ENSP00000507912.1:p.Glu618Gly
ENST00000682826.1:c.*1029A>G	ENSP00000507274.1:n.*1029A>G
ENST00000682909.1:n.3755A>G
ENST00000683277.1:n.3360A>G
ENST00000683407.1:n.1723A>G
ENST00000683962.1:c.*1409A>G	ENSP00000506854.1:n.*1409A>G
ENST00000311895.8:c.1715A>G MANE Select	ENSP00000310520.7:p.Glu572Gly
ENST00000311895.7:c.1715A>G	ENSP00000310520.7:p.Glu572Gly
ENST00000389138.7:n.992A>G
NM_005236.2:c.1715A>G , LRG_463t1:c.1715A>G	NP_005227.1:p.Glu572Gly
XM_011522424.1:c.1853A>G	XP_011520726.1:p.Glu618Gly
XM_011522425.1:c.1172A>G	XP_011520727.1:p.Glu391Gly
XM_011522426.1:c.926A>G	XP_011520728.1:p.Glu309Gly
XM_011522427.1:c.365A>G	XP_011520729.1:p.Glu122Gly
XR_932805.1:n.1874A>G
XM_011522424.3:c.1853A>G	XP_011520726.1:p.Glu618Gly
XM_017023043.2:c.926A>G	XP_016878532.1:p.Glu309Gly
NM_005236.3:c.1715A>G MANE Select	NP_005227.1:p.Glu572Gly