Canonical Allele Identifier: CA2209073537
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935708A= , CM000678.2:g.13935708A= GRCh38
NC_000016.9:g.14029565A= , CM000678.1:g.14029565A= GRCh37
NC_000016.8:g.13937066A= NCBI36
NG_011442.1:g.20552A= , LRG_463:g.20552A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1854A=
ENST00000682617.1:c.1914A= ENSP00000507912.1:p.Glu638=
ENST00000682826.1:c.*1090A= ENSP00000507274.1:n.*1090A=
ENST00000682909.1:n.3816A=
ENST00000683277.1:n.3421A=
ENST00000683407.1:n.1784A=
ENST00000683962.1:c.*1470A= ENSP00000506854.1:n.*1470A=
ENST00000311895.8:c.1776A= MANE Select ENSP00000310520.7:p.Glu592=
ENST00000311895.7:c.1776A= ENSP00000310520.7:p.Glu592=
ENST00000389138.7:n.1053A=
NM_005236.2:c.1776A= , LRG_463t1:c.1776A= NP_005227.1:p.Glu592=
XM_011522424.1:c.1914A= XP_011520726.1:p.Glu638=
XM_011522425.1:c.1233A= XP_011520727.1:p.Glu411=
XM_011522426.1:c.987A= XP_011520728.1:p.Glu329=
XM_011522427.1:c.426A= XP_011520729.1:p.Glu142=
XR_932805.1:n.1935A=
XM_011522424.3:c.1914A= XP_011520726.1:p.Glu638=
XM_017023043.2:c.987A= XP_016878532.1:p.Glu329=
NM_005236.3:c.1776A= MANE Select NP_005227.1:p.Glu592=