Canonical Allele Identifier: CA394812797

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029581A>T (hg19) ; chr16:g.13935724A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935724A>T , CM000678.2:g.13935724A>T	GRCh38
NC_000016.9:g.14029581A>T , CM000678.1:g.14029581A>T	GRCh37
NC_000016.8:g.13937082A>T	NCBI36
NG_011442.1:g.20568A>T , LRG_463:g.20568A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1870A>T
ENST00000682617.1:c.1930A>T	ENSP00000507912.1:p.Arg644Trp
ENST00000682826.1:c.*1106A>T	ENSP00000507274.1:n.*1106A>T
ENST00000682909.1:n.3832A>T
ENST00000683277.1:n.3437A>T
ENST00000683407.1:n.1800A>T
ENST00000683962.1:c.*1486A>T	ENSP00000506854.1:n.*1486A>T
ENST00000311895.8:c.1792A>T MANE Select	ENSP00000310520.7:p.Arg598Trp
ENST00000311895.7:c.1792A>T	ENSP00000310520.7:p.Arg598Trp
ENST00000389138.7:n.1069A>T
NM_005236.2:c.1792A>T , LRG_463t1:c.1792A>T	NP_005227.1:p.Arg598Trp
XM_011522424.1:c.1930A>T	XP_011520726.1:p.Arg644Trp
XM_011522425.1:c.1249A>T	XP_011520727.1:p.Arg417Trp
XM_011522426.1:c.1003A>T	XP_011520728.1:p.Arg335Trp
XM_011522427.1:c.442A>T	XP_011520729.1:p.Arg148Trp
XR_932805.1:n.1951A>T
XM_011522424.3:c.1930A>T	XP_011520726.1:p.Arg644Trp
XM_017023043.2:c.1003A>T	XP_016878532.1:p.Arg335Trp
NM_005236.3:c.1792A>T MANE Select	NP_005227.1:p.Arg598Trp