Canonical Allele Identifier: CA493689764
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141607562
MyVariant Identifiers: chr16:g.14029322G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935465G>A , CM000678.2:g.13935465G>A GRCh38
NC_000016.9:g.14029322G>A , CM000678.1:g.14029322G>A GRCh37
NC_000016.8:g.13936823G>A NCBI36
NG_011442.1:g.20309G>A , LRG_463:g.20309G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682568.1:n.1611G>A
ENST00000682617.1:c.1671G>A ENSP00000507912.1:p.Glu557=
ENST00000682826.1:c.*847G>A ENSP00000507274.1:n.*847G>A
ENST00000682909.1:n.3573G>A
ENST00000683277.1:n.3178G>A
ENST00000683407.1:n.1541G>A
ENST00000683962.1:c.*1227G>A ENSP00000506854.1:n.*1227G>A
ENST00000311895.8:c.1533G>A MANE Select ENSP00000310520.7:p.Glu511=
ENST00000311895.7:c.1533G>A ENSP00000310520.7:p.Glu511=
ENST00000389138.7:n.810G>A
NM_005236.2:c.1533G>A , LRG_463t1:c.1533G>A NP_005227.1:p.Glu511=
XM_011522424.1:c.1671G>A XP_011520726.1:p.Glu557=
XM_011522425.1:c.990G>A XP_011520727.1:p.Glu330=
XM_011522426.1:c.744G>A XP_011520728.1:p.Glu248=
XM_011522427.1:c.183G>A XP_011520729.1:p.Glu61=
XR_932805.1:n.1692G>A
XM_011522424.3:c.1671G>A XP_011520726.1:p.Glu557=
XM_017023043.2:c.744G>A XP_016878532.1:p.Glu248=
NM_005236.3:c.1533G>A MANE Select NP_005227.1:p.Glu511=