Canonical Allele Identifier: CA394824369
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948130A>C , CM000678.2:g.13948130A>C GRCh38
NC_000016.9:g.14041987A>C , CM000678.1:g.14041987A>C GRCh37
NC_000016.8:g.13949488A>C NCBI36
NG_011442.1:g.32974A>C , LRG_463:g.32974A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2672A>C ENSP00000507912.1:p.Asn891Thr
ENST00000683962.1:c.*2228A>C ENSP00000506854.1:n.*2228A>C
ENST00000311895.8:c.2534A>C MANE Select ENSP00000310520.7:p.Asn845Thr
ENST00000311895.7:c.2534A>C ENSP00000310520.7:p.Asn845Thr
ENST00000389138.7:n.1811A>C
NM_005236.2:c.2534A>C , LRG_463t1:c.2534A>C NP_005227.1:p.Asn845Thr
XM_011522424.1:c.2672A>C XP_011520726.1:p.Asn891Thr
XM_011522425.1:c.1991A>C XP_011520727.1:p.Asn664Thr
XM_011522426.1:c.1745A>C XP_011520728.1:p.Asn582Thr
XM_011522427.1:c.1184A>C XP_011520729.1:p.Asn395Thr
XR_932805.1:n.2693A>C
XM_011522424.3:c.2672A>C XP_011520726.1:p.Asn891Thr
XM_017023043.2:c.1745A>C XP_016878532.1:p.Asn582Thr
NM_005236.3:c.2534A>C MANE Select NP_005227.1:p.Asn845Thr