Canonical Allele Identifier: CA493689634
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041556T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947699T>A , CM000678.2:g.13947699T>A GRCh38
NC_000016.9:g.14041556T>A , CM000678.1:g.14041556T>A GRCh37
NC_000016.8:g.13949057T>A NCBI36
NG_011442.1:g.32543T>A , LRG_463:g.32543T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2241T>A ENSP00000507912.1:p.Arg747=
ENST00000683962.1:c.*1797T>A ENSP00000506854.1:n.*1797T>A
ENST00000311895.8:c.2103T>A MANE Select ENSP00000310520.7:p.Arg701=
ENST00000311895.7:c.2103T>A ENSP00000310520.7:p.Arg701=
ENST00000389138.7:n.1380T>A
ENST00000462862.1:c.416T>A ENSP00000461322.1:n.416T>A
NM_005236.2:c.2103T>A , LRG_463t1:c.2103T>A NP_005227.1:p.Arg701=
XM_011522424.1:c.2241T>A XP_011520726.1:p.Arg747=
XM_011522425.1:c.1560T>A XP_011520727.1:p.Arg520=
XM_011522426.1:c.1314T>A XP_011520728.1:p.Arg438=
XM_011522427.1:c.753T>A XP_011520729.1:p.Arg251=
XR_932805.1:n.2262T>A
XM_011522424.3:c.2241T>A XP_011520726.1:p.Arg747=
XM_017023043.2:c.1314T>A XP_016878532.1:p.Arg438=
NM_005236.3:c.2103T>A MANE Select NP_005227.1:p.Arg701=