Canonical Allele Identifier: CA394812539

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029524G>T (hg19) ; chr16:g.13935667G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935667G>T , CM000678.2:g.13935667G>T	GRCh38
NC_000016.9:g.14029524G>T , CM000678.1:g.14029524G>T	GRCh37
NC_000016.8:g.13937025G>T	NCBI36
NG_011442.1:g.20511G>T , LRG_463:g.20511G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1813G>T
ENST00000682617.1:c.1873G>T	ENSP00000507912.1:p.Val625Phe
ENST00000682826.1:c.*1049G>T	ENSP00000507274.1:n.*1049G>T
ENST00000682909.1:n.3775G>T
ENST00000683277.1:n.3380G>T
ENST00000683407.1:n.1743G>T
ENST00000683962.1:c.*1429G>T	ENSP00000506854.1:n.*1429G>T
ENST00000311895.8:c.1735G>T MANE Select	ENSP00000310520.7:p.Val579Phe
ENST00000311895.7:c.1735G>T	ENSP00000310520.7:p.Val579Phe
ENST00000389138.7:n.1012G>T
NM_005236.2:c.1735G>T , LRG_463t1:c.1735G>T	NP_005227.1:p.Val579Phe
XM_011522424.1:c.1873G>T	XP_011520726.1:p.Val625Phe
XM_011522425.1:c.1192G>T	XP_011520727.1:p.Val398Phe
XM_011522426.1:c.946G>T	XP_011520728.1:p.Val316Phe
XM_011522427.1:c.385G>T	XP_011520729.1:p.Val129Phe
XR_932805.1:n.1894G>T
XM_011522424.3:c.1873G>T	XP_011520726.1:p.Val625Phe
XM_017023043.2:c.946G>T	XP_016878532.1:p.Val316Phe
NM_005236.3:c.1735G>T MANE Select	NP_005227.1:p.Val579Phe