Canonical Allele Identifier: CA2209073083
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935469G= , CM000678.2:g.13935469G= GRCh38
NC_000016.9:g.14029326G= , CM000678.1:g.14029326G= GRCh37
NC_000016.8:g.13936827G= NCBI36
NG_011442.1:g.20313G= , LRG_463:g.20313G=

Transcript Alleles

HGVS Amino-acid change
ENST00000682568.1:n.1615G=
ENST00000682617.1:c.1675G= ENSP00000507912.1:p.Gly559=
ENST00000682826.1:c.*851G= ENSP00000507274.1:n.*851G=
ENST00000682909.1:n.3577G=
ENST00000683277.1:n.3182G=
ENST00000683407.1:n.1545G=
ENST00000683962.1:c.*1231G= ENSP00000506854.1:n.*1231G=
ENST00000311895.8:c.1537G= MANE Select ENSP00000310520.7:p.Gly513=
ENST00000311895.7:c.1537G= ENSP00000310520.7:p.Gly513=
ENST00000389138.7:n.814G=
NM_005236.2:c.1537G= , LRG_463t1:c.1537G= NP_005227.1:p.Gly513=
XM_011522424.1:c.1675G= XP_011520726.1:p.Gly559=
XM_011522425.1:c.994G= XP_011520727.1:p.Gly332=
XM_011522426.1:c.748G= XP_011520728.1:p.Gly250=
XM_011522427.1:c.187G= XP_011520729.1:p.Gly63=
XR_932805.1:n.1696G=
XM_011522424.3:c.1675G= XP_011520726.1:p.Gly559=
XM_017023043.2:c.748G= XP_016878532.1:p.Gly250=
NM_005236.3:c.1537G= MANE Select NP_005227.1:p.Gly513=