Canonical Allele Identifier: CA394822759

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947869-T-A
• MyVariant Identifiers: chr16:g.14041726T>A (hg19) ; chr16:g.13947869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947869T>A , CM000678.2:g.13947869T>A	GRCh38
NC_000016.9:g.14041726T>A , CM000678.1:g.14041726T>A	GRCh37
NC_000016.8:g.13949227T>A	NCBI36
NG_011442.1:g.32713T>A , LRG_463:g.32713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2411T>A	ENSP00000507912.1:p.Leu804Gln
ENST00000683962.1:c.*1967T>A	ENSP00000506854.1:n.*1967T>A
ENST00000311895.8:c.2273T>A MANE Select	ENSP00000310520.7:p.Leu758Gln
ENST00000311895.7:c.2273T>A	ENSP00000310520.7:p.Leu758Gln
ENST00000389138.7:n.1550T>A
ENST00000462862.1:c.586T>A	ENSP00000461322.1:n.586T>A
NM_005236.2:c.2273T>A , LRG_463t1:c.2273T>A	NP_005227.1:p.Leu758Gln
XM_011522424.1:c.2411T>A	XP_011520726.1:p.Leu804Gln
XM_011522425.1:c.1730T>A	XP_011520727.1:p.Leu577Gln
XM_011522426.1:c.1484T>A	XP_011520728.1:p.Leu495Gln
XM_011522427.1:c.923T>A	XP_011520729.1:p.Leu308Gln
XR_932805.1:n.2432T>A
XM_011522424.3:c.2411T>A	XP_011520726.1:p.Leu804Gln
XM_017023043.2:c.1484T>A	XP_016878532.1:p.Leu495Gln
NM_005236.3:c.2273T>A MANE Select	NP_005227.1:p.Leu758Gln