Canonical Allele Identifier: CA493690017
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041823T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947966T>A , CM000678.2:g.13947966T>A GRCh38
NC_000016.9:g.14041823T>A , CM000678.1:g.14041823T>A GRCh37
NC_000016.8:g.13949324T>A NCBI36
NG_011442.1:g.32810T>A , LRG_463:g.32810T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2508T>A ENSP00000507912.1:p.Leu836=
ENST00000683962.1:c.*2064T>A ENSP00000506854.1:n.*2064T>A
ENST00000311895.8:c.2370T>A MANE Select ENSP00000310520.7:p.Leu790=
ENST00000311895.7:c.2370T>A ENSP00000310520.7:p.Leu790=
ENST00000389138.7:n.1647T>A
ENST00000462862.1:c.683T>A ENSP00000461322.1:n.683T>A
NM_005236.2:c.2370T>A , LRG_463t1:c.2370T>A NP_005227.1:p.Leu790=
XM_011522424.1:c.2508T>A XP_011520726.1:p.Leu836=
XM_011522425.1:c.1827T>A XP_011520727.1:p.Leu609=
XM_011522426.1:c.1581T>A XP_011520728.1:p.Leu527=
XM_011522427.1:c.1020T>A XP_011520729.1:p.Leu340=
XR_932805.1:n.2529T>A
XM_011522424.3:c.2508T>A XP_011520726.1:p.Leu836=
XM_017023043.2:c.1581T>A XP_016878532.1:p.Leu527=
NM_005236.3:c.2370T>A MANE Select NP_005227.1:p.Leu790=