Canonical Allele Identifier: CA493444415

Gene: ERCC4

Linked Data

• dbSNP Id: rs2044134801
• MyVariant Identifiers: chr16:g.14038679C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944822C>T , CM000678.2:g.13944822C>T	GRCh38
NC_000016.9:g.14038679C>T , CM000678.1:g.14038679C>T	GRCh37
NC_000016.8:g.13946180C>T	NCBI36
NG_011442.1:g.29666C>T , LRG_463:g.29666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2142C>T	ENSP00000507912.1:p.Asp714=
ENST00000683962.1:c.*1698C>T	ENSP00000506854.1:n.*1698C>T
ENST00000311895.8:c.2004C>T MANE Select	ENSP00000310520.7:p.Asp668=
ENST00000311895.7:c.2004C>T	ENSP00000310520.7:p.Asp668=
ENST00000389138.7:n.1281C>T
ENST00000462862.1:c.317C>T	ENSP00000461322.1:n.317C>T
NM_005236.2:c.2004C>T , LRG_463t1:c.2004C>T	NP_005227.1:p.Asp668=
XM_011522424.1:c.2142C>T	XP_011520726.1:p.Asp714=
XM_011522425.1:c.1461C>T	XP_011520727.1:p.Asp487=
XM_011522426.1:c.1215C>T	XP_011520728.1:p.Asp405=
XM_011522427.1:c.654C>T	XP_011520729.1:p.Asp218=
XR_932805.1:n.2163C>T
XM_011522424.3:c.2142C>T	XP_011520726.1:p.Asp714=
XM_017023043.2:c.1215C>T	XP_016878532.1:p.Asp405=
NM_005236.3:c.2004C>T MANE Select	NP_005227.1:p.Asp668=