Canonical Allele Identifier: CA394812190

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029441T>A (hg19) ; chr16:g.13935584T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935584T>A , CM000678.2:g.13935584T>A	GRCh38
NC_000016.9:g.14029441T>A , CM000678.1:g.14029441T>A	GRCh37
NC_000016.8:g.13936942T>A	NCBI36
NG_011442.1:g.20428T>A , LRG_463:g.20428T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1730T>A
ENST00000682617.1:c.1790T>A	ENSP00000507912.1:p.Leu597His
ENST00000682826.1:c.*966T>A	ENSP00000507274.1:n.*966T>A
ENST00000682909.1:n.3692T>A
ENST00000683277.1:n.3297T>A
ENST00000683407.1:n.1660T>A
ENST00000683962.1:c.*1346T>A	ENSP00000506854.1:n.*1346T>A
ENST00000311895.8:c.1652T>A MANE Select	ENSP00000310520.7:p.Leu551His
ENST00000311895.7:c.1652T>A	ENSP00000310520.7:p.Leu551His
ENST00000389138.7:n.929T>A
NM_005236.2:c.1652T>A , LRG_463t1:c.1652T>A	NP_005227.1:p.Leu551His
XM_011522424.1:c.1790T>A	XP_011520726.1:p.Leu597His
XM_011522425.1:c.1109T>A	XP_011520727.1:p.Leu370His
XM_011522426.1:c.863T>A	XP_011520728.1:p.Leu288His
XM_011522427.1:c.302T>A	XP_011520729.1:p.Leu101His
XR_932805.1:n.1811T>A
XM_011522424.3:c.1790T>A	XP_011520726.1:p.Leu597His
XM_017023043.2:c.863T>A	XP_016878532.1:p.Leu288His
NM_005236.3:c.1652T>A MANE Select	NP_005227.1:p.Leu551His