Canonical Allele Identifier: CA394811645

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032269559
• MyVariant Identifiers: chr16:g.14029368G>A (hg19) ; chr16:g.13935511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935511G>A , CM000678.2:g.13935511G>A	GRCh38
NC_000016.9:g.14029368G>A , CM000678.1:g.14029368G>A	GRCh37
NC_000016.8:g.13936869G>A	NCBI36
NG_011442.1:g.20355G>A , LRG_463:g.20355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1657G>A
ENST00000682617.1:c.1717G>A	ENSP00000507912.1:p.Glu573Lys
ENST00000682826.1:c.*893G>A	ENSP00000507274.1:n.*893G>A
ENST00000682909.1:n.3619G>A
ENST00000683277.1:n.3224G>A
ENST00000683407.1:n.1587G>A
ENST00000683962.1:c.*1273G>A	ENSP00000506854.1:n.*1273G>A
ENST00000311895.8:c.1579G>A MANE Select	ENSP00000310520.7:p.Glu527Lys
ENST00000311895.7:c.1579G>A	ENSP00000310520.7:p.Glu527Lys
ENST00000389138.7:n.856G>A
NM_005236.2:c.1579G>A , LRG_463t1:c.1579G>A	NP_005227.1:p.Glu527Lys
XM_011522424.1:c.1717G>A	XP_011520726.1:p.Glu573Lys
XM_011522425.1:c.1036G>A	XP_011520727.1:p.Glu346Lys
XM_011522426.1:c.790G>A	XP_011520728.1:p.Glu264Lys
XM_011522427.1:c.229G>A	XP_011520729.1:p.Glu77Lys
XR_932805.1:n.1738G>A
XM_011522424.3:c.1717G>A	XP_011520726.1:p.Glu573Lys
XM_017023043.2:c.790G>A	XP_016878532.1:p.Glu264Lys
NM_005236.3:c.1579G>A MANE Select	NP_005227.1:p.Glu527Lys