Canonical Allele Identifier: CA394822173

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947740-A-T
• MyVariant Identifiers: chr16:g.14041597A>T (hg19) ; chr16:g.13947740A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947740A>T , CM000678.2:g.13947740A>T	GRCh38
NC_000016.9:g.14041597A>T , CM000678.1:g.14041597A>T	GRCh37
NC_000016.8:g.13949098A>T	NCBI36
NG_011442.1:g.32584A>T , LRG_463:g.32584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2282A>T	ENSP00000507912.1:p.Asp761Val
ENST00000683962.1:c.*1838A>T	ENSP00000506854.1:n.*1838A>T
ENST00000311895.8:c.2144A>T MANE Select	ENSP00000310520.7:p.Asp715Val
ENST00000311895.7:c.2144A>T	ENSP00000310520.7:p.Asp715Val
ENST00000389138.7:n.1421A>T
ENST00000462862.1:c.457A>T	ENSP00000461322.1:n.457A>T
NM_005236.2:c.2144A>T , LRG_463t1:c.2144A>T	NP_005227.1:p.Asp715Val
XM_011522424.1:c.2282A>T	XP_011520726.1:p.Asp761Val
XM_011522425.1:c.1601A>T	XP_011520727.1:p.Asp534Val
XM_011522426.1:c.1355A>T	XP_011520728.1:p.Asp452Val
XM_011522427.1:c.794A>T	XP_011520729.1:p.Asp265Val
XR_932805.1:n.2303A>T
XM_011522424.3:c.2282A>T	XP_011520726.1:p.Asp761Val
XM_017023043.2:c.1355A>T	XP_016878532.1:p.Asp452Val
NM_005236.3:c.2144A>T MANE Select	NP_005227.1:p.Asp715Val