Canonical Allele Identifier: CA2209082814
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947990A= , CM000678.2:g.13947990A= GRCh38
NC_000016.9:g.14041847A= , CM000678.1:g.14041847A= GRCh37
NC_000016.8:g.13949348A= NCBI36
NG_011442.1:g.32834A= , LRG_463:g.32834A=

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2532A= ENSP00000507912.1:p.Leu844=
ENST00000683962.1:c.*2088A= ENSP00000506854.1:n.*2088A=
ENST00000311895.8:c.2394A= MANE Select ENSP00000310520.7:p.Leu798=
ENST00000311895.7:c.2394A= ENSP00000310520.7:p.Leu798=
ENST00000389138.7:n.1671A=
ENST00000462862.1:c.707A= ENSP00000461322.1:n.707A=
NM_005236.2:c.2394A= , LRG_463t1:c.2394A= NP_005227.1:p.Leu798=
XM_011522424.1:c.2532A= XP_011520726.1:p.Leu844=
XM_011522425.1:c.1851A= XP_011520727.1:p.Leu617=
XM_011522426.1:c.1605A= XP_011520728.1:p.Leu535=
XM_011522427.1:c.1044A= XP_011520729.1:p.Leu348=
XR_932805.1:n.2553A=
XM_011522424.3:c.2532A= XP_011520726.1:p.Leu844=
XM_017023043.2:c.1605A= XP_016878532.1:p.Leu535=
NM_005236.3:c.2394A= MANE Select NP_005227.1:p.Leu798=