Canonical Allele Identifier: CA394824456
Gene: ERCC4 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948157A>C , CM000678.2:g.13948157A>C GRCh38
NC_000016.9:g.14042014A>C , CM000678.1:g.14042014A>C GRCh37
NC_000016.8:g.13949515A>C NCBI36
NG_011442.1:g.33001A>C , LRG_463:g.33001A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2699A>C ENSP00000507912.1:p.Lys900Thr
ENST00000683962.1:c.*2255A>C ENSP00000506854.1:n.*2255A>C
ENST00000311895.8:c.2561A>C MANE Select ENSP00000310520.7:p.Lys854Thr
ENST00000311895.7:c.2561A>C ENSP00000310520.7:p.Lys854Thr
ENST00000389138.7:n.1838A>C
NM_005236.2:c.2561A>C , LRG_463t1:c.2561A>C NP_005227.1:p.Lys854Thr
XM_011522424.1:c.2699A>C XP_011520726.1:p.Lys900Thr
XM_011522425.1:c.2018A>C XP_011520727.1:p.Lys673Thr
XM_011522426.1:c.1772A>C XP_011520728.1:p.Lys591Thr
XM_011522427.1:c.1211A>C XP_011520729.1:p.Lys404Thr
XR_932805.1:n.2720A>C
XM_011522424.3:c.2699A>C XP_011520726.1:p.Lys900Thr
XM_017023043.2:c.1772A>C XP_016878532.1:p.Lys591Thr
NM_005236.3:c.2561A>C MANE Select NP_005227.1:p.Lys854Thr