Canonical Allele Identifier: CA394824651
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948221A>C , CM000678.2:g.13948221A>C GRCh38
NC_000016.9:g.14042078A>C , CM000678.1:g.14042078A>C GRCh37
NC_000016.8:g.13949579A>C NCBI36
NG_011442.1:g.33065A>C , LRG_463:g.33065A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2763A>C ENSP00000507912.1:p.Glu921Asp
ENST00000683962.1:c.*2319A>C ENSP00000506854.1:n.*2319A>C
ENST00000311895.8:c.2625A>C MANE Select ENSP00000310520.7:p.Glu875Asp
ENST00000311895.7:c.2625A>C ENSP00000310520.7:p.Glu875Asp
ENST00000389138.7:n.1902A>C
NM_005236.2:c.2625A>C , LRG_463t1:c.2625A>C NP_005227.1:p.Glu875Asp
XM_011522424.1:c.2763A>C XP_011520726.1:p.Glu921Asp
XM_011522425.1:c.2082A>C XP_011520727.1:p.Glu694Asp
XM_011522426.1:c.1836A>C XP_011520728.1:p.Glu612Asp
XM_011522427.1:c.1275A>C XP_011520729.1:p.Glu425Asp
XR_932805.1:n.2784A>C
XM_011522424.3:c.2763A>C XP_011520726.1:p.Glu921Asp
XM_017023043.2:c.1836A>C XP_016878532.1:p.Glu612Asp
NM_005236.3:c.2625A>C MANE Select NP_005227.1:p.Glu875Asp