Canonical Allele Identifier: CA493444486
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141621369
MyVariant Identifiers: chr16:g.14042102G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948245G>A , CM000678.2:g.13948245G>A GRCh38
NC_000016.9:g.14042102G>A , CM000678.1:g.14042102G>A GRCh37
NC_000016.8:g.13949603G>A NCBI36
NG_011442.1:g.33089G>A , LRG_463:g.33089G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2787G>A ENSP00000507912.1:p.Glu929=
ENST00000683962.1:c.*2343G>A ENSP00000506854.1:n.*2343G>A
ENST00000311895.8:c.2649G>A MANE Select ENSP00000310520.7:p.Glu883=
ENST00000311895.7:c.2649G>A ENSP00000310520.7:p.Glu883=
ENST00000389138.7:n.1926G>A
NM_005236.2:c.2649G>A , LRG_463t1:c.2649G>A NP_005227.1:p.Glu883=
XM_011522424.1:c.2787G>A XP_011520726.1:p.Glu929=
XM_011522425.1:c.2106G>A XP_011520727.1:p.Glu702=
XM_011522426.1:c.1860G>A XP_011520728.1:p.Glu620=
XM_011522427.1:c.1299G>A XP_011520729.1:p.Glu433=
XR_932805.1:n.2808G>A
XM_011522424.3:c.2787G>A XP_011520726.1:p.Glu929=
XM_017023043.2:c.1860G>A XP_016878532.1:p.Glu620=
NM_005236.3:c.2649G>A MANE Select NP_005227.1:p.Glu883=