Canonical Allele Identifier: CA2209073410
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935649G= , CM000678.2:g.13935649G= GRCh38
NC_000016.9:g.14029506G= , CM000678.1:g.14029506G= GRCh37
NC_000016.8:g.13937007G= NCBI36
NG_011442.1:g.20493G= , LRG_463:g.20493G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1795G=
ENST00000682617.1:c.1855G= ENSP00000507912.1:p.Val619=
ENST00000682826.1:c.*1031G= ENSP00000507274.1:n.*1031G=
ENST00000682909.1:n.3757G=
ENST00000683277.1:n.3362G=
ENST00000683407.1:n.1725G=
ENST00000683962.1:c.*1411G= ENSP00000506854.1:n.*1411G=
ENST00000311895.8:c.1717G= MANE Select ENSP00000310520.7:p.Val573=
ENST00000311895.7:c.1717G= ENSP00000310520.7:p.Val573=
ENST00000389138.7:n.994G=
NM_005236.2:c.1717G= , LRG_463t1:c.1717G= NP_005227.1:p.Val573=
XM_011522424.1:c.1855G= XP_011520726.1:p.Val619=
XM_011522425.1:c.1174G= XP_011520727.1:p.Val392=
XM_011522426.1:c.928G= XP_011520728.1:p.Val310=
XM_011522427.1:c.367G= XP_011520729.1:p.Val123=
XR_932805.1:n.1876G=
XM_011522424.3:c.1855G= XP_011520726.1:p.Val619=
XM_017023043.2:c.928G= XP_016878532.1:p.Val310=
NM_005236.3:c.1717G= MANE Select NP_005227.1:p.Val573=