Canonical Allele Identifier: CA2209082922
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948215C= , CM000678.2:g.13948215C= GRCh38
NC_000016.9:g.14042072C= , CM000678.1:g.14042072C= GRCh37
NC_000016.8:g.13949573C= NCBI36
NG_011442.1:g.33059C= , LRG_463:g.33059C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2757C= ENSP00000507912.1:p.Ile919=
ENST00000683962.1:c.*2313C= ENSP00000506854.1:n.*2313C=
ENST00000311895.8:c.2619C= MANE Select ENSP00000310520.7:p.Ile873=
ENST00000311895.7:c.2619C= ENSP00000310520.7:p.Ile873=
ENST00000389138.7:n.1896C=
NM_005236.2:c.2619C= , LRG_463t1:c.2619C= NP_005227.1:p.Ile873=
XM_011522424.1:c.2757C= XP_011520726.1:p.Ile919=
XM_011522425.1:c.2076C= XP_011520727.1:p.Ile692=
XM_011522426.1:c.1830C= XP_011520728.1:p.Ile610=
XM_011522427.1:c.1269C= XP_011520729.1:p.Ile423=
XR_932805.1:n.2778C=
XM_011522424.3:c.2757C= XP_011520726.1:p.Ile919=
XM_017023043.2:c.1830C= XP_016878532.1:p.Ile610=
NM_005236.3:c.2619C= MANE Select NP_005227.1:p.Ile873=