Canonical Allele Identifier: CA394812607

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935683-A-G
• MyVariant Identifiers: chr16:g.14029540A>G (hg19) ; chr16:g.13935683A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935683A>G , CM000678.2:g.13935683A>G	GRCh38
NC_000016.9:g.14029540A>G , CM000678.1:g.14029540A>G	GRCh37
NC_000016.8:g.13937041A>G	NCBI36
NG_011442.1:g.20527A>G , LRG_463:g.20527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1829A>G
ENST00000682617.1:c.1889A>G	ENSP00000507912.1:p.Glu630Gly
ENST00000682826.1:c.*1065A>G	ENSP00000507274.1:n.*1065A>G
ENST00000682909.1:n.3791A>G
ENST00000683277.1:n.3396A>G
ENST00000683407.1:n.1759A>G
ENST00000683962.1:c.*1445A>G	ENSP00000506854.1:n.*1445A>G
ENST00000311895.8:c.1751A>G MANE Select	ENSP00000310520.7:p.Glu584Gly
ENST00000311895.7:c.1751A>G	ENSP00000310520.7:p.Glu584Gly
ENST00000389138.7:n.1028A>G
NM_005236.2:c.1751A>G , LRG_463t1:c.1751A>G	NP_005227.1:p.Glu584Gly
XM_011522424.1:c.1889A>G	XP_011520726.1:p.Glu630Gly
XM_011522425.1:c.1208A>G	XP_011520727.1:p.Glu403Gly
XM_011522426.1:c.962A>G	XP_011520728.1:p.Glu321Gly
XM_011522427.1:c.401A>G	XP_011520729.1:p.Glu134Gly
XR_932805.1:n.1910A>G
XM_011522424.3:c.1889A>G	XP_011520726.1:p.Glu630Gly
XM_017023043.2:c.962A>G	XP_016878532.1:p.Glu321Gly
NM_005236.3:c.1751A>G MANE Select	NP_005227.1:p.Glu584Gly