Canonical Allele Identifier: CA3218936114
Community Standard Title: NM_005236.3(ERCC4):c.2368C= (p.Leu790=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947964C= , CM000678.2:g.13947964C= GRCh38
NC_000016.9:g.14041821C= , CM000678.1:g.14041821C= GRCh37
NC_000016.8:g.13949322C= NCBI36
NG_011442.1:g.32808C= , LRG_463:g.32808C=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2368C= MANE Select NP_005227.1:p.Leu790=
ENST00000311895.8:c.2368C= MANE Select ENSP00000310520.7:p.Leu790=
NM_005236.2:c.2368C= , LRG_463t1:c.2368C= NP_005227.1:p.Leu790=
ENST00000311895.7:c.2368C= ENSP00000310520.7:p.Leu790=
ENST00000389138.7:n.1645C=
ENST00000462862.1:c.681C= ENSP00000461322.1:n.681C=
ENST00000682617.1:c.2506C= ENSP00000507912.1:p.Leu836=
ENST00000683962.1:c.*2062C= ENSP00000506854.1:n.*2062C=
XM_011522424.1:c.2506C= XP_011520726.1:p.Leu836=
XM_011522424.3:c.2506C= XP_011520726.1:p.Leu836=
XM_011522425.1:c.1825C= XP_011520727.1:p.Leu609=
XM_011522426.1:c.1579C= XP_011520728.1:p.Leu527=
XM_011522427.1:c.1018C= XP_011520729.1:p.Leu340=
XM_017023043.2:c.1579C= XP_016878532.1:p.Leu527=
XR_932805.1:n.2527C=