Canonical Allele Identifier: CA2209081453
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944834C= , CM000678.2:g.13944834C= GRCh38
NC_000016.9:g.14038691C= , CM000678.1:g.14038691C= GRCh37
NC_000016.8:g.13946192C= NCBI36
NG_011442.1:g.29678C= , LRG_463:g.29678C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2154C= ENSP00000507912.1:p.Ala718=
ENST00000683962.1:c.*1710C= ENSP00000506854.1:n.*1710C=
ENST00000311895.8:c.2016C= MANE Select ENSP00000310520.7:p.Ala672=
ENST00000311895.7:c.2016C= ENSP00000310520.7:p.Ala672=
ENST00000389138.7:n.1293C=
ENST00000462862.1:c.329C= ENSP00000461322.1:n.329C=
NM_005236.2:c.2016C= , LRG_463t1:c.2016C= NP_005227.1:p.Ala672=
XM_011522424.1:c.2154C= XP_011520726.1:p.Ala718=
XM_011522425.1:c.1473C= XP_011520727.1:p.Ala491=
XM_011522426.1:c.1227C= XP_011520728.1:p.Ala409=
XM_011522427.1:c.666C= XP_011520729.1:p.Ala222=
XR_932805.1:n.2175C=
XM_011522424.3:c.2154C= XP_011520726.1:p.Ala718=
XM_017023043.2:c.1227C= XP_016878532.1:p.Ala409=
NM_005236.3:c.2016C= MANE Select NP_005227.1:p.Ala672=