Canonical Allele Identifier: CA2209081408
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944743T= , CM000678.2:g.13944743T= GRCh38
NC_000016.9:g.14038600T= , CM000678.1:g.14038600T= GRCh37
NC_000016.8:g.13946101T= NCBI36
NG_011442.1:g.29587T= , LRG_463:g.29587T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2063T= ENSP00000507912.1:p.Val688=
ENST00000683962.1:c.*1619T= ENSP00000506854.1:n.*1619T=
ENST00000311895.8:c.1925T= MANE Select ENSP00000310520.7:p.Val642=
ENST00000311895.7:c.1925T= ENSP00000310520.7:p.Val642=
ENST00000389138.7:n.1202T=
ENST00000462862.1:c.238T= ENSP00000461322.1:n.238T=
NM_005236.2:c.1925T= , LRG_463t1:c.1925T= NP_005227.1:p.Val642=
XM_011522424.1:c.2063T= XP_011520726.1:p.Val688=
XM_011522425.1:c.1382T= XP_011520727.1:p.Val461=
XM_011522426.1:c.1136T= XP_011520728.1:p.Val379=
XM_011522427.1:c.575T= XP_011520729.1:p.Val192=
XR_932805.1:n.2084T=
XM_011522424.3:c.2063T= XP_011520726.1:p.Val688=
XM_017023043.2:c.1136T= XP_016878532.1:p.Val379=
NM_005236.3:c.1925T= MANE Select NP_005227.1:p.Val642=