Canonical Allele Identifier: CA394812803

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029582G>T (hg19) ; chr16:g.13935725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935725G>T , CM000678.2:g.13935725G>T	GRCh38
NC_000016.9:g.14029582G>T , CM000678.1:g.14029582G>T	GRCh37
NC_000016.8:g.13937083G>T	NCBI36
NG_011442.1:g.20569G>T , LRG_463:g.20569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1871G>T
ENST00000682617.1:c.1931G>T	ENSP00000507912.1:p.Arg644Met
ENST00000682826.1:c.*1107G>T	ENSP00000507274.1:n.*1107G>T
ENST00000682909.1:n.3833G>T
ENST00000683277.1:n.3438G>T
ENST00000683407.1:n.1801G>T
ENST00000683962.1:c.*1487G>T	ENSP00000506854.1:n.*1487G>T
ENST00000311895.8:c.1793G>T MANE Select	ENSP00000310520.7:p.Arg598Met
ENST00000311895.7:c.1793G>T	ENSP00000310520.7:p.Arg598Met
ENST00000389138.7:n.1070G>T
NM_005236.2:c.1793G>T , LRG_463t1:c.1793G>T	NP_005227.1:p.Arg598Met
XM_011522424.1:c.1931G>T	XP_011520726.1:p.Arg644Met
XM_011522425.1:c.1250G>T	XP_011520727.1:p.Arg417Met
XM_011522426.1:c.1004G>T	XP_011520728.1:p.Arg335Met
XM_011522427.1:c.443G>T	XP_011520729.1:p.Arg148Met
XR_932805.1:n.1952G>T
XM_011522424.3:c.1931G>T	XP_011520726.1:p.Arg644Met
XM_017023043.2:c.1004G>T	XP_016878532.1:p.Arg335Met
NM_005236.3:c.1793G>T MANE Select	NP_005227.1:p.Arg598Met