Canonical Allele Identifier: CA394812395

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029473G>T (hg19) ; chr16:g.13935616G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935616G>T , CM000678.2:g.13935616G>T	GRCh38
NC_000016.9:g.14029473G>T , CM000678.1:g.14029473G>T	GRCh37
NC_000016.8:g.13936974G>T	NCBI36
NG_011442.1:g.20460G>T , LRG_463:g.20460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1762G>T
ENST00000682617.1:c.1822G>T	ENSP00000507912.1:p.Asp608Tyr
ENST00000682826.1:c.*998G>T	ENSP00000507274.1:n.*998G>T
ENST00000682909.1:n.3724G>T
ENST00000683277.1:n.3329G>T
ENST00000683407.1:n.1692G>T
ENST00000683962.1:c.*1378G>T	ENSP00000506854.1:n.*1378G>T
ENST00000311895.8:c.1684G>T MANE Select	ENSP00000310520.7:p.Asp562Tyr
ENST00000311895.7:c.1684G>T	ENSP00000310520.7:p.Asp562Tyr
ENST00000389138.7:n.961G>T
NM_005236.2:c.1684G>T , LRG_463t1:c.1684G>T	NP_005227.1:p.Asp562Tyr
XM_011522424.1:c.1822G>T	XP_011520726.1:p.Asp608Tyr
XM_011522425.1:c.1141G>T	XP_011520727.1:p.Asp381Tyr
XM_011522426.1:c.895G>T	XP_011520728.1:p.Asp299Tyr
XM_011522427.1:c.334G>T	XP_011520729.1:p.Asp112Tyr
XR_932805.1:n.1843G>T
XM_011522424.3:c.1822G>T	XP_011520726.1:p.Asp608Tyr
XM_017023043.2:c.895G>T	XP_016878532.1:p.Asp299Tyr
NM_005236.3:c.1684G>T MANE Select	NP_005227.1:p.Asp562Tyr