Canonical Allele Identifier: CA394824341
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948126T>C , CM000678.2:g.13948126T>C GRCh38
NC_000016.9:g.14041983T>C , CM000678.1:g.14041983T>C GRCh37
NC_000016.8:g.13949484T>C NCBI36
NG_011442.1:g.32970T>C , LRG_463:g.32970T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2668T>C ENSP00000507912.1:p.Tyr890His
ENST00000683962.1:c.*2224T>C ENSP00000506854.1:n.*2224T>C
ENST00000311895.8:c.2530T>C MANE Select ENSP00000310520.7:p.Tyr844His
ENST00000311895.7:c.2530T>C ENSP00000310520.7:p.Tyr844His
ENST00000389138.7:n.1807T>C
NM_005236.2:c.2530T>C , LRG_463t1:c.2530T>C NP_005227.1:p.Tyr844His
XM_011522424.1:c.2668T>C XP_011520726.1:p.Tyr890His
XM_011522425.1:c.1987T>C XP_011520727.1:p.Tyr663His
XM_011522426.1:c.1741T>C XP_011520728.1:p.Tyr581His
XM_011522427.1:c.1180T>C XP_011520729.1:p.Tyr394His
XR_932805.1:n.2689T>C
XM_011522424.3:c.2668T>C XP_011520726.1:p.Tyr890His
XM_017023043.2:c.1741T>C XP_016878532.1:p.Tyr581His
NM_005236.3:c.2530T>C MANE Select NP_005227.1:p.Tyr844His