Canonical Allele Identifier: CA493689821
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141620352
MyVariant Identifiers: chr16:g.14041733G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947876G>A , CM000678.2:g.13947876G>A GRCh38
NC_000016.9:g.14041733G>A , CM000678.1:g.14041733G>A GRCh37
NC_000016.8:g.13949234G>A NCBI36
NG_011442.1:g.32720G>A , LRG_463:g.32720G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2418G>A ENSP00000507912.1:p.Glu806=
ENST00000683962.1:c.*1974G>A ENSP00000506854.1:n.*1974G>A
ENST00000311895.8:c.2280G>A MANE Select ENSP00000310520.7:p.Glu760=
ENST00000311895.7:c.2280G>A ENSP00000310520.7:p.Glu760=
ENST00000389138.7:n.1557G>A
ENST00000462862.1:c.593G>A ENSP00000461322.1:n.593G>A
NM_005236.2:c.2280G>A , LRG_463t1:c.2280G>A NP_005227.1:p.Glu760=
XM_011522424.1:c.2418G>A XP_011520726.1:p.Glu806=
XM_011522425.1:c.1737G>A XP_011520727.1:p.Glu579=
XM_011522426.1:c.1491G>A XP_011520728.1:p.Glu497=
XM_011522427.1:c.930G>A XP_011520729.1:p.Glu310=
XR_932805.1:n.2439G>A
XM_011522424.3:c.2418G>A XP_011520726.1:p.Glu806=
XM_017023043.2:c.1491G>A XP_016878532.1:p.Glu497=
NM_005236.3:c.2280G>A MANE Select NP_005227.1:p.Glu760=