Canonical Allele Identifier: CA394812814

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029584C>A (hg19) ; chr16:g.13935727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935727C>A , CM000678.2:g.13935727C>A	GRCh38
NC_000016.9:g.14029584C>A , CM000678.1:g.14029584C>A	GRCh37
NC_000016.8:g.13937085C>A	NCBI36
NG_011442.1:g.20571C>A , LRG_463:g.20571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1873C>A
ENST00000682617.1:c.1933C>A	ENSP00000507912.1:p.Pro645Thr
ENST00000682826.1:c.*1109C>A	ENSP00000507274.1:n.*1109C>A
ENST00000682909.1:n.3835C>A
ENST00000683277.1:n.3440C>A
ENST00000683407.1:n.1803C>A
ENST00000683962.1:c.*1489C>A	ENSP00000506854.1:n.*1489C>A
ENST00000311895.8:c.1795C>A MANE Select	ENSP00000310520.7:p.Pro599Thr
ENST00000311895.7:c.1795C>A	ENSP00000310520.7:p.Pro599Thr
ENST00000389138.7:n.1072C>A
NM_005236.2:c.1795C>A , LRG_463t1:c.1795C>A	NP_005227.1:p.Pro599Thr
XM_011522424.1:c.1933C>A	XP_011520726.1:p.Pro645Thr
XM_011522425.1:c.1252C>A	XP_011520727.1:p.Pro418Thr
XM_011522426.1:c.1006C>A	XP_011520728.1:p.Pro336Thr
XM_011522427.1:c.445C>A	XP_011520729.1:p.Pro149Thr
XR_932805.1:n.1954C>A
XM_011522424.3:c.1933C>A	XP_011520726.1:p.Pro645Thr
XM_017023043.2:c.1006C>A	XP_016878532.1:p.Pro336Thr
NM_005236.3:c.1795C>A MANE Select	NP_005227.1:p.Pro599Thr