Canonical Allele Identifier: CA493689783

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1146409
• ClinVar RCV Id: RCV001485623
• dbSNP Id: rs1477890575
• gnomAD v3: 16-13947819-C-T
• gnomAD v4: 16-13947819-C-T
• MyVariant Identifiers: chr16:g.14041676C>T (hg19) ; chr16:g.13947819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947819C>T , CM000678.2:g.13947819C>T	GRCh38
NC_000016.9:g.14041676C>T , CM000678.1:g.14041676C>T	GRCh37
NC_000016.8:g.13949177C>T	NCBI36
NG_011442.1:g.32663C>T , LRG_463:g.32663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2361C>T	ENSP00000507912.1:p.Leu787=
ENST00000683962.1:c.*1917C>T	ENSP00000506854.1:n.*1917C>T
ENST00000311895.8:c.2223C>T MANE Select	ENSP00000310520.7:p.Leu741=
ENST00000311895.7:c.2223C>T	ENSP00000310520.7:p.Leu741=
ENST00000389138.7:n.1500C>T
ENST00000462862.1:c.536C>T	ENSP00000461322.1:n.536C>T
NM_005236.2:c.2223C>T , LRG_463t1:c.2223C>T	NP_005227.1:p.Leu741=
XM_011522424.1:c.2361C>T	XP_011520726.1:p.Leu787=
XM_011522425.1:c.1680C>T	XP_011520727.1:p.Leu560=
XM_011522426.1:c.1434C>T	XP_011520728.1:p.Leu478=
XM_011522427.1:c.873C>T	XP_011520729.1:p.Leu291=
XR_932805.1:n.2382C>T
XM_011522424.3:c.2361C>T	XP_011520726.1:p.Leu787=
XM_017023043.2:c.1434C>T	XP_016878532.1:p.Leu478=
NM_005236.3:c.2223C>T MANE Select	NP_005227.1:p.Leu741=